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Gene: Sfn MGI:1891831

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

stratifin

Synonyms:

14-3-3 sigma, Er, Ywhas, MME1, 14-3-3

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sfn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Sfn (0 diseases)
Human diseases predicted to be associated with Sfn (3558 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sfn by phenotypic similarity.

Disease	Matching phenotypes	Source
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio...	OMIM:615897
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp...	OMIM:618944
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc...	OMIM:607594
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Immunodeficiency 44	Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le...	OMIM:616636
Pruritus, Hereditary Localized	Pruritus	OMIM:177100
Dermatitis Herpetiformis, Familial	Pruritus	OMIM:601230
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair, Growth delay	OMIM:246500
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt...	OMIM:233650
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Recurrent infections, Lymphadenopathy, Decreased circulating a...	OMIM:618261
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Immunodeficiency 14B, Autosomal Recessive	Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent...	OMIM:617765
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Squamous cell carcinoma, Basal cell carcinoma, Onych...	OMIM:224750
Tuftsin Deficiency	Abnormality of the spleen, Recurrent infections	OMIM:191150
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia...	OMIM:617514
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Lymphadenopat...	OMIM:618982
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H...	ORPHA:50944
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level, Recurrent infections	OMIM:235900
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal natural killer cell ...	OMIM:212050
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Invasive f...	ORPHA:98813
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida...	OMIM:614069
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Attached earlobe, Narrow face, Synophrys, Abnormal form of the vertebral b...	ORPHA:1327
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt...	OMIM:619220
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga...	OMIM:609529
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 95	Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul...	OMIM:619773
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Rhizomelia, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Microcephaly, Sensori...	OMIM:215100
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re...	OMIM:269840
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Chromosome 3Pter-P25 Deletion Syndrome	Micrognathia, Synophrys, Downturned corners of mouth, High palate, Gastroesophageal reflux, Preau...	OMIM:613792
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ...	OMIM:615214
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Low anterior hairline, Short philtrum, Cl...	ORPHA:1449
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ...	OMIM:618394
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Lymphopenia, ...	OMIM:620210
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac...	ORPHA:169079
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 15B	Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr...	OMIM:615592
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Posteriorly rotated ears, Micrognathia, Microcephaly, Sho...	ORPHA:1832
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Abnormality of the dentition, Micrognathia, Microce...	ORPHA:217340
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Ant...	ORPHA:1703
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Lymphopenia, Persistent EBV viremia, Decreased circulating tota...	OMIM:619510
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Recurrent opportunistic infections, Recurrent upper respir...	ORPHA:277
Distal Deletion 10P	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hearing impairment, Micrognathia, Microce...	ORPHA:1580
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Gastroesophageal reflux...	OMIM:613604
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dislocated radi...	OMIM:612350
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Recurre...	OMIM:608106
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Micrognathia, Microcephaly, Underdeveloped nasal alae, Conductive hearing impairment, Wide nasal ...	OMIM:248910
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati...	OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hearing impairment, Micrognathia, Capitate-hamate fusion, Short toe, Limited el...	OMIM:614078
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyl...	OMIM:616145
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig...	OMIM:619774
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda...	ORPHA:2994
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, Anteverted nares, Depressed nasal bridge, Prema...	OMIM:617364
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Increased circulating IgE level, Severe cytomegalovirus infection, Decreased circul...	OMIM:617638
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ...	OMIM:616005
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Gastroesophageal reflux, Cl...	OMIM:614701
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea...	OMIM:614878
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Synophrys, High palate, Clinodactyly of the 5th finger, Short...	OMIM:605130
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef...	OMIM:620269
Trisomy 12P	Thick eyebrow, Supernumerary nipple, Micrognathia, Short neck, Wide nasal bridge, Cleft palate, D...	ORPHA:1699
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Asthma, Cleft palate, Mild microcephaly, ...	OMIM:618761
Renpenning Syndrome	Mandibular prognathia, Narrow face, Prominent nose, High, narrow palate, Short philtrum, Clinodac...	ORPHA:3242
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypoplasia of the pons, Synophrys, Low anterior hairline, Short philtrum, Widely spaced teeth, Ga...	OMIM:619293
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Hepatomegaly, Abnormality of ...	ORPHA:1597
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Micrognathia, Microcephaly, Cryptorchidism, ...	OMIM:611890
Pierpont Syndrome	Short neck, Large fleshy ears, Widely spaced teeth, Short palm, Prominent fingertip pads, Micrope...	OMIM:602342
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor...	OMIM:255800
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Microcephaly, Underdeveloped nasal...	ORPHA:435628
Activated Pi3K-Delta Syndrome	Hepatomegaly, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Decreased c...	ORPHA:397596
Glass Syndrome	Dental crowding, Anterior tibial bowing, Apnea, Conical tooth, Micrognathia, Long nose, Oligodont...	OMIM:612313
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, High...	OMIM:617402
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Microphallus, High anterior hairline, Long face, Hypospadias, Depres...	ORPHA:94065
Even-Plus Syndrome	Epiphyseal dysplasia, Highly arched eyebrow, Aplasia cutis congenita, Bifid nasal tip, Dysplastic...	OMIM:616854
Distal Monosomy 7Q36	Large face, Hypoplasia of penis, Micrognathia, Microcephaly, Cryptorchidism, Non-midline cleft li...	ORPHA:1636
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Shor...	ORPHA:2015
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplica...	OMIM:617127
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Redundant neck skin, Dental crowding, Short neck, Rectal prolapse, Short metatarsal, High palate,...	OMIM:617157
Stuve-Wiedemann Syndrome 1	Apnea, Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibial bowing, ...	OMIM:601559
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micrognathia, Short neck, Large fleshy ears, Micropenis, Hypospadias, Anteverted nares, Decreased...	OMIM:616897
Oculoauriculofrontonasal Syndrome	Skin tags, Pericallosal lipoma, Wide nose, Micrognathia, Microcephaly, Cleft lip, Underdeveloped ...	ORPHA:398156
Emery-Nelson Syndrome	Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb...	ORPHA:1927
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Single transverse palmar crease, Synophrys, High palate, Prominent fingert...	OMIM:617804
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph...	ORPHA:1427
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Pierpont Syndrome	Uplifted earlobe, Short neck, Widely spaced teeth, Prominent fingertip pads, Cryptorchidism, Shor...	ORPHA:487825
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve...	OMIM:300755
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Thick hair, Cleft lip...	ORPHA:217017
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, In...	OMIM:616098
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Microcephaly, Micrognathia, Bulbous nose, Wide nasal bridge, Skin dimple, T...	ORPHA:261304
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax...	OMIM:614976
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephaly, High palate, Pr...	OMIM:300558
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Anisospondyly, Cryptorchidism, Wide nas...	ORPHA:1865
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Clitoral hy...	OMIM:268310
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Sh...	OMIM:615777
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th...	ORPHA:1988
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Recurrent opportunistic infections, T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopeni...	OMIM:601457
Acromicric Dysplasia	Short metacarpal, Round face, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, Deep philtr...	OMIM:102370
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo...	ORPHA:2631
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia...	OMIM:618986
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur...	OMIM:619752
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased...	OMIM:616740
Whim Syndrome 1	Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac...	OMIM:193670
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Absent forearm, Overlapping toe, Single transverse palmar crease, Posteriorly r...	OMIM:201170
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Thin upper lip vermilion, Thick eyebrow, Anteverted nares, Micrognathia, 2-3 toe syndactyly, Shor...	OMIM:618608
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Microcephaly, Underdeveloped nasal...	OMIM:614098
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Hepatitis, Recurrent candida in...	ORPHA:169160
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:615767
Prolidase Deficiency	Micrognathia, Depressed nasal ridge, Low anterior hairline, Abnormal facial shape, Generalized hi...	ORPHA:742
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in...	OMIM:256050
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Lymphad...	ORPHA:331235
Distal Duplication 15Q	Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Microcephaly, Cryp...	ORPHA:1707
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Immunodeficiency 19	Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp...	OMIM:615617
Wilson-Turner Syndrome	Thin upper lip vermilion, Hypogonadotropic hypogonadism, Uplifted earlobe, Micrognathia, Tapered ...	ORPHA:3459
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow face, Micrognathia, Short neck, Partial agenesis of the corpus callosum, Synophrys, Short ...	OMIM:620250
Flat Face-Microstomia-Ear Anomaly Syndrome	Small scrotum, Abnormal oral mucosa morphology, Micrognathia, Long nose, High, narrow palate, Dow...	ORPHA:1968
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy...	OMIM:611717
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Hepatomegaly, Severe B lymphocytopenia, Lymphopenia, Aplasia o...	OMIM:102700
Junctional Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Growth delay, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, ...	ORPHA:79405
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Micrognathia, Glossoptosis, Mandibular condyle apla...	OMIM:614669
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi...	ORPHA:141152
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Depressed nasal bridge, Rocker bottom foot, Micrognathia, Microcephaly, Parieta...	OMIM:618766
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, High palate, Phocomelia, Sparse hair, Wrist flexion co...	OMIM:268300
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Coarse facial features, Micrognathia, Carious teeth, Flared metaph...	ORPHA:93346
Immunodeficiency 25	Recurrent herpes, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Inc...	OMIM:610163
Ohdo Syndrome, X-Linked	Small scrotum, Micrognathia, Prominent nose, High palate, Widely spaced teeth, Microdontia, Micro...	OMIM:300895
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Short neck, Deep philtrum, Delayed epiphyseal ossification, Tachypnea, Death in child...	OMIM:613320
Kaufman Oculocerebrofacial Syndrome	Narrow face, Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High pala...	OMIM:244450
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin...	OMIM:617602
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Numerous nevi, Single transverse palmar crease, Hemif...	ORPHA:536471
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Thick eyebrow, Abnormal pinna morphology, Perianal abscess, Cryptorchid...	OMIM:614684
Moebius Syndrome	Respiratory distress, Abnormal nasopharynx morphology, Micrognathia, Short neck, Hypoplasia of th...	OMIM:157900
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ...	OMIM:601812
19P13.3 Microduplication Syndrome	Micrognathia, Prominent nose, Short philtrum, Gastroesophageal reflux, Abnormal facial shape, Lon...	ORPHA:447980
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Sparse hair,...	OMIM:129400
Tetrasomy 5P	Respiratory distress, Redundant neck skin, Micrognathia, Short neck, High palate, Clinodactyly of...	ORPHA:3309
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
2Q32Q33 Microdeletion Syndrome	Dental crowding, Micrognathia, Oligodontia, High palate, Sparse hair, Clinodactyly of the 5th fin...	ORPHA:251019
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Low anterior hairline, Downturn...	OMIM:300882
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p...	ORPHA:2935
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Nicolaides-Baraitser Syndrome	High, narrow palate, Abnormal finger morphology, Short palm, Sparse hair, Thick nasal alae, Alope...	ORPHA:3051
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, ...	OMIM:611209
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Abnormality of the philtrum, Abnormality of the dentition, Synophr...	ORPHA:3268
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop...	OMIM:619164
Zimmermann-Laband Syndrome 3	Synophrys, Low anterior hairline, High palate, Triphalangeal thumb, Long hallux, Bifid uvula, Apl...	OMIM:618658
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Prea...	ORPHA:79113
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Hearing impairment, Short neck, Puncta...	ORPHA:1914
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Recon Progeroid Syndrome	Attached earlobe, Dental crowding, Proximal placement of thumb, Absent lower eyelashes, Scaling s...	OMIM:620370
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Thin upper lip vermilion, Posteriorly rotated ears, Tapered finger, Broad nasal tip, Narrow jaw, ...	OMIM:618147
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi...	OMIM:610759
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Severe varicella zoster infection, Splenomegaly, Rec...	OMIM:615122
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Micrognathia, Cryptorchi...	ORPHA:1695
Developmental And Epileptic Encephalopathy 89	Death in childhood, Neonatal death, Long philtrum, Microretrognathia, Anteverted nares, Depressed...	OMIM:619124
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal natural killer cell physiolo...	OMIM:613101
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Narrow face, Ulnar deviation of the wrist, Camptodactyly o...	ORPHA:1529
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Sparse scalp hair, Arachnodactyly, Sparse eyelashes, Kyphoscoliosis, Palmoplantar cutis...	ORPHA:75496
Arthrogryposis, Distal, Type 1C	Short neck, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wrist flexion cont...	OMIM:619110
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Low posterior hairline, Short foot, Abnormal facial shape, High palate, ...	OMIM:300577
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, External genital hypoplasia, Micrognathia, Agenesis of corpus callo...	OMIM:600118
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Campomelic Dysplasia	Micrognathia, Short neck, Tibial bowing, Femoral bowing, Hypoplastic inferior ilia, Poorly ossifi...	ORPHA:140
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Congenital hip dislocation, Clinodactyly of the 5th finger, Sparse hair, Broad col...	ORPHA:217346
Distal Deletion 1Q	Round face, Depressed nasal bridge, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus ...	ORPHA:36367
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathi...	OMIM:610536
3C Syndrome	Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial clef...	ORPHA:7
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections...	ORPHA:217390
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Deep philtrum, Vertebral segmentation defect, High palate, Short phil...	OMIM:612530
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thromb...	OMIM:614470
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Microcephaly, Crypt...	OMIM:224410
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Brittle hair, Redundant skin, Coarse hair, High palate, Pachygyria, D...	OMIM:219200
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, Microcephaly, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, S...	OMIM:239800
Dysostosis, Stanescu Type	Cerebral calcification, Micromelia, Short neck, Hypoplasia of the maxilla, Abnormal dental enamel...	ORPHA:1798
Opitz-Kaveggia Syndrome	Skin tags, Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Short ...	OMIM:305450
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopeni...	OMIM:615285
Cutis Laxa, Autosomal Recessive, Type Iid	Redundant skin, Kyphoscoliosis, Bilateral cryptorchidism, Bulbous nose, Macrotia, Hip dislocation...	OMIM:617403
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Glossoptosis, Increased head circumf...	ORPHA:94068
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Hypogonadotropic...	ORPHA:1387
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Pe...	OMIM:619126
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Short neck, Hypoplasia of the brainstem, High palate, Spi...	OMIM:193700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Asplenia, Low anterior hairline, Short ...	OMIM:617746
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Large face, Hyperl...	ORPHA:2831
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Thick upper lip...	ORPHA:163654
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Dep...	ORPHA:261120
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Microcephaly, Short neck, Cryptorchidism, Sensorineura...	ORPHA:464288
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic...	OMIM:614700
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, ...	OMIM:151210
Larsen-Like Syndrome	Kyphoscoliosis, Conductive hearing impairment, Dental malocclusion, Cleft palate, Absent nasal br...	OMIM:608545
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tong...	ORPHA:2759
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Prominent nose, Bifid uvula, Dandy-Walker malformation, Depressed nasal bri...	OMIM:300968
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Thin upper lip vermilion, Hypoplasia of the ulna, Wide nose, Micrognathia, Synophrys, Microtia, E...	ORPHA:357175
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Rocker bottom foot, Highly arched eyebrow, Underdeveloped tragus, Spa...	OMIM:618804
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Facial asymmetry, Short neck, Hyperlordo...	ORPHA:710
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutro...	OMIM:301078
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of the subungual region, Squamous cell carcinoma, Growth delay, Basal cell carcinoma,...	ORPHA:79411
Intellectual Developmental Disorder, Autosomal Recessive 35	Thin upper lip vermilion, Hypoplasia of the ulna, Wide nose, Coarse facial features, Micrognathia...	OMIM:615162
Late-Onset Junctional Epidermolysis Bullosa	Squamous cell carcinoma, Growth delay, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, ...	ORPHA:79406
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor...	ORPHA:96148
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph...	OMIM:618108
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Metatarsus val...	ORPHA:1388
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Sensorineural hearin...	ORPHA:921
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Dent...	OMIM:619719
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Short neck, High palate, Long face, Arachnodactyly, High...	ORPHA:505237
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:618204
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ...	OMIM:609029
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Oropharyngeal squamous cell carcinoma, Yellow nails, Breast carcinoma, Ony...	OMIM:614564
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae,...	OMIM:224690
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Anteverted nares, Depressed nasal bridge, ...	ORPHA:171839
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Upper airway obstruction, Cle...	OMIM:261800
Odontochondrodysplasia 1	Respiratory distress, Narrow face, Micromelia, Metaphyseal widening, Short phalanx of finger, Lon...	OMIM:184260
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Fused teeth, High...	ORPHA:93932
Immunodeficiency 22	Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circulating to...	OMIM:615758
Emanuel Syndrome	Redundant neck skin, Dental crowding, Congenital hip dislocation, Micrognathia, High palate, Gast...	ORPHA:96170
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ...	OMIM:616331
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow...	ORPHA:561
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Micrognathia, Metaphyseal widening, Anterior atlanto-occipital dislocation,...	ORPHA:536467
Robin Sequence-Oligodactyly Syndrome	Narrow face, Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligod...	ORPHA:3104
Cheilitis Glandularis	Neoplasm, Squamous cell carcinoma	ORPHA:1221
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ...	OMIM:619148
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ...	ORPHA:250984
Chung-Jansen Syndrome	Round face, Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Synophrys, Macrotia, ...	OMIM:617991
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer...	OMIM:114290
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Pfeiffer Syndrome Type 2	Respiratory distress, Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalan...	ORPHA:93259
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, D...	OMIM:618622
Kbg Syndrome	Single transverse palmar crease, Short neck, Synophrys, Finger clinodactyly, Widely-spaced maxill...	ORPHA:2332
Intellectual Disability, Wolff Type	Microretrognathia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, T...	ORPHA:3080
Osteopathia Striata-Cranial Sclerosis Syndrome	Cerebral calcification, Micrognathia, High, narrow palate, Conductive hearing impairment, Large i...	ORPHA:2780
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Microcephaly, Long fingers, Narro...	OMIM:156610
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
20Q11.2 Microduplication Syndrome	Bifid scrotum, Tented upper lip vermilion, Short palm, Clinodactyly of the 5th finger, Abnormal n...	ORPHA:363659
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Finger clinodactyly, Depressed nasal bridge, Tapered finger, Cryptorchidism, Micro...	OMIM:601353
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Cerebral white matter atrophy, Death in infancy, ...	OMIM:615042
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve...	ORPHA:87
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgA level, Decreased p...	OMIM:618048
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Posteriorly rotated ears, Tapered finger, Microcephaly, Cleft lip, Narrow mouth, Smal...	OMIM:618089
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Perching Syndrome	Respiratory distress, Depressed nasal bridge, High palate, Scoliosis, Dysphagia, Camptodactyly	OMIM:617055
Intellectual Developmental Disorder, Autosomal Dominant 59	Sacral dimple, Highly arched eyebrow, Macrocephaly, Short foot, Protruding ear, Long philtrum, Lo...	OMIM:618522
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Van Maldergem Syndrome 1	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:601390
Hemifacial Microsomia With Radial Defects	Preauricular pit, Hemifacial hypoplasia, Preauricular skin tag, Non-midline cleft lip, Orofacial ...	OMIM:141400
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Intellectual Developmental Disorder, Autosomal Recessive 45	Round face, Coarse facial features, Anteverted nares, Highly arched eyebrow, Bulbous nose, Synoph...	OMIM:615979
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Short neck, Cryptor...	OMIM:618393
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Coarse facial features, Anteverted nares, Sh...	ORPHA:884
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Choanal atresia, Microcephaly, Carious teeth, Preaxial hand polydactyly...	ORPHA:2316
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Prominent nose, Depressed nasa...	OMIM:156200
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Ab...	ORPHA:1807
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hand muscle atrophy, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxi...	OMIM:600561
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Abnormal antihelix morphol...	ORPHA:2145
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Round face, Reduced cerebral white matter volume, Microcephaly, Narrow mouth, Wide nasal bridge, ...	OMIM:617333
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Short neck, Macrocephaly, Short foot, Talipes equinov...	ORPHA:93298
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Zellweger Syndrome	Micrognathia, High palate, Death in infancy, Hepatomegaly, Hypospadias, Depressed nasal bridge, C...	ORPHA:912
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Rec...	OMIM:602450
Nabais Sa-De Vries Syndrome, Type 2	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Tapered finger, Micrognathia, P...	OMIM:618829
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Coarse facial features, Anteverted nare...	OMIM:313420
Chromosome 5Q12 Deletion Syndrome	Long toe, Sacral dimple, Coarse facial features, Posteriorly rotated ears, Micrognathia, Prominen...	OMIM:615668
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Myoectodermal Gonadal Dysgenesis Syndrome	Single transverse palmar crease, Clitoral hypoplasia, Cutaneous finger syndactyly, Scaling skin, ...	OMIM:618419
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postax...	OMIM:617102
Distal Duplication 18Q	Hypoplasia of penis, Micrognathia, Short neck, Progressive intervertebral space narrowing, High p...	ORPHA:1716
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Abnormal metacarpal morphology, Abnormal form of the vertebral...	ORPHA:2370
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal palmar dermatoglyphics, Subcutaneous nodule, Hypoplasia of the ir...	ORPHA:2092
Achondrogenesis Type 1A	Anteverted nares, Micromelia, Micrognathia, Short neck, Macrocephaly, Short foot, Short palm, Sho...	ORPHA:93299
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Abnormality of the dentition, Microcephaly, Spina bifida occulta, Epiphysea...	ORPHA:177
Perlman Syndrome	Hypoplasia of penis, Micrognathia, High, narrow palate, Naevus flammeus of the eyelid, Thickened ...	ORPHA:2849
Mandibulofacial Dysostosis With Alopecia	Preauricular pit, Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth,...	OMIM:616367
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Patchy alopec...	OMIM:141300
Larsen Syndrome	Finger syndactyly, Brachydactyly, Depressed nasal bridge, Short nail, Cryptorchidism, Accessory c...	ORPHA:503
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Sacral dimple, Tented upper lip vermilion, 2-3 toe cutaneous syndactyly, T...	OMIM:615828
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Recurrent respiratory infections, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior ha...	OMIM:212720
Kleefstra Syndrome 1	Mandibular prognathia, Single transverse palmar crease, Synophrys, Gastroesophageal reflux, Micro...	OMIM:610253
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Cleft palate, Dysphagia, Respiratory insufficiency...	OMIM:614399
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Short metatarsal, Protruding ear, Short palm, Sparse hair, Short phalanx of fing...	OMIM:190351
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Sacral dimple, Single transverse palmar crease, Prominent nasal bridge,...	OMIM:613544
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, External genital hypoplasia, Patellar hypoplasia, Protru...	ORPHA:3041
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Abnormal facial s...	ORPHA:56304
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depressed nasal bri...	OMIM:616809
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Abnormal external genitalia, Microcephaly, Narrow mouth, Micro...	ORPHA:3469
Achondrogenesis	Anteverted nares, Micromelia, Micrognathia, Short neck, Macrocephaly, Short nose, Flat face, Long...	ORPHA:932
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Synophrys, High palate, Short philtrum, Gastroesophageal reflux, Anteverted nar...	OMIM:616977
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micro...	ORPHA:245
Hadziselimovic Syndrome	Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Microcephaly, Thick lower lip...	OMIM:612946
Isolated Klippel-Feil Syndrome	Facial asymmetry, Short neck, Abnormal sacrum morphology, Cleft palate, Low posterior hairline, A...	ORPHA:2345
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Acrogeria	Aplasia/Hypoplasia of the skin, Micrognathia, Small hand, Skin ulcer, Fine hair, Short foot, Exce...	ORPHA:2500
Reticular Dysgenesis	Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib...	ORPHA:33355
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Persistent CMV viremia, Cholangitis, BCGosis, Leukocytosis, ...	OMIM:619652
Orofaciodigital Syndrome Type 10	Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Central apnea, Toe syndactyly, Camptodactyly of finger, Short ...	ORPHA:1617
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Simosa Craniofacial Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Underdeveloped nasal ...	OMIM:182150
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Hepa...	OMIM:300635
Blepharocheilodontic Syndrome 1	Choanal atresia, Cleft upper lip, Conical tooth, High anterior hairline, Cutaneous syndactyly, Hy...	OMIM:119580
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond...	ORPHA:2980
Down Syndrome	Short neck, Depressed nasal ridge, Downturned corners of mouth, Conductive hearing impairment, Cl...	ORPHA:870
Thanatophoric Dysplasia	Depressed nasal bridge, Redundant skin, Micromelia, Hearing impairment, Abnormal sacroiliac joint...	ORPHA:2655
Trichorhinophalangeal Syndrome Type 1	Micrognathia, Short metatarsal, Protruding ear, High palate, Sparse hair, Clinodactyly of the 5th...	ORPHA:77258
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Hepatomegaly, Redundant neck skin, Rhizomelia, Anteverted nares, Micromeli...	ORPHA:1842
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Micrognathia, Short neck, Abnormally large globe, Webbed neck, Shoulder dislocation, Microdontia,...	OMIM:245600
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Fryns Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, High palate, Gastroesophageal reflux, Clino...	ORPHA:2059
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypospadias, Micrognathia, Microcephaly, Wide mouth, Widely spaced teeth, H...	OMIM:300934
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Ante...	OMIM:151050
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection...	ORPHA:572
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striat...	OMIM:300373
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the cer...	ORPHA:1812
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Pectoral muscle hypoplasia/a...	OMIM:136760
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Anteverted nares, Underdeveloped nasal alae, Congenital pyloric atresia, Microtia, Macrocephaly, ...	OMIM:612138
Grant Syndrome	Large face, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abnormal p...	ORPHA:2097
8Q22.1 Microdeletion Syndrome	Short neck, Hypoplasia of the maxilla, Depressed nasal ridge, Finger syndactyly, Underfolded heli...	ORPHA:178303
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:601859
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Cryptococcal meningitis, Decreased circulating antibody level, ...	ORPHA:90362
Diastrophic Dysplasia	Cerebral calcification, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affe...	ORPHA:628
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Sho...	ORPHA:2983
Atelis Syndrome 1	Glue ear, Prominent nose, Carious teeth, Bronchiectasis, Dry skin, Lumbar kyphosis, Microtia, Hig...	OMIM:620184
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Macro...	ORPHA:261295
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microcephaly, Micrognathia, Cleft palate, Talipes equinovarus, Cerebellar hyp...	OMIM:616570
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Rec...	OMIM:301045
Cofs Syndrome	Death in infancy, Cerebral calcification, Camptodactyly of finger, Micrognathia, Microcephaly, Ab...	ORPHA:1466
Clark-Baraitser Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Sandal gap, Anteverted nares, Microcephaly, De...	OMIM:617752
Pallister-Hall Syndrome	Hemivertebrae, Anteriorly placed anus, Neonatal death, Micropenis, Distal shortening of limbs, Sy...	OMIM:146510
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Micrognathia, Prominent interphalangeal joints, Aplasia/Hypoplasia of the capital femoral epiphys...	OMIM:215150
Intellectual Developmental Disorder, Autosomal Dominant 23	Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Hyp...	OMIM:615761
16P11.2P12.2 Microdeletion Syndrome	Proximal placement of thumb, Long nose, Orofacial cleft, Absent nasal bridge, Gastroesophageal re...	ORPHA:261211
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Posteriorly rotated ears, Abnorm...	OMIM:618774
Oculoauriculovertebral Spectrum With Radial Defects	Preauricular pit, Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaur...	ORPHA:2549
Ck Syndrome	Narrow face, Dental crowding, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, Pac...	OMIM:300831
Isolated Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis	ORPHA:718
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Van Maldergem Syndrome 2	Bifid scrotum, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Microgna...	OMIM:615546
Arterial Tortuosity Syndrome	Respiratory distress, Redundant skin, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th...	ORPHA:3342
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Coarse facial features, Thick hair, Kyphosis, Sy...	ORPHA:2429
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Uplifted earlobe, Micrognathia, Short neck, Synophrys, Low anterior hairline, Shor...	OMIM:616734
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hea...	OMIM:122880
Al-Raqad Syndrome	Thin upper lip vermilion, Sandal gap, Microcephaly, Low-set ears, Narrow mouth, Short nose, Flat ...	OMIM:616459
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Short neck, Low anterior hairline, Coxa vara, High palate, Wrist...	ORPHA:800
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Non-Distal Duplication 13Q	Arachnodactyly, Abnormality of the dentition, Micrognathia, Microcephaly, Postaxial hand polydact...	ORPHA:1702
Hennekam-Beemer Syndrome	Micrognathia, Long nose, Subcutaneous nodule, High palate, Conductive hearing impairment, Clinoda...	ORPHA:2135
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossificati...	OMIM:183900
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Depr...	ORPHA:166272
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl...	OMIM:156510
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Proximal 16P11.2 Microduplication Syndrome	Abnormal basal ganglia MRI signal intensity, Thin upper lip vermilion, Arachnodactyly, Sparse eye...	ORPHA:370079
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Brachydactyly, Anteverted nares, Ovoid vertebral b...	ORPHA:969
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Protruding ear, High palate, Hypoplastic iliac wing, Small ...	ORPHA:93315
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Camptodactyly of finger, Micrognathia, Microcephaly, Recurrent pneumonia, Protr...	ORPHA:1495
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Prominent nose, Synophrys, Webbed neck, Short philtrum, Gastroesophageal reflux,...	OMIM:618316
Peroxisome Biogenesis Disorder 7A (Zellweger)	Death in infancy, Hepatomegaly, Posteriorly rotated ears, Jaundice, Epiphyseal stippling, High pa...	OMIM:614872
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Webbed neck, Anteriorly placed anus, Downturned corners of mouth, Clito...	OMIM:616894
Acrocephalopolydactyly	Short neck, Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Microtia, Limb undergrowt...	ORPHA:221054
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Short neck, Abnormality of the spleen, Anorectal anomaly, Abnormal form of the vert...	ORPHA:1834
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cholangitis, Micrognathia, Short neck, Short metatarsal, High palate, Widely spaced teeth, Hepati...	OMIM:266920
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Abnormal form of the vertebral bodies, Triphala...	ORPHA:794
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Micromelia, Microcephaly, Underdeveloped nasal alae, Cryptorch...	OMIM:180870
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Syndactyly, Depressed nasal bridge, Narrow mouth, Microtia, Abnormal facial ...	OMIM:616006
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Mild microcephaly, Abnormal facial shape, Micropenis, Thick upper lip vermilion, Hypos...	ORPHA:363444
Absence Deformity Of Leg-Cataract Syndrome	Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth, ...	ORPHA:2310
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Hypointensity of cerebral white matter on MRI, Anteverted nares, Microc...	ORPHA:46
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front...	ORPHA:436003
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Mullegama-Klein-Martinez Syndrome	Micrognathia, Prominent nose, Low anterior hairline, Short philtrum, Clinodactyly of the 5th fing...	OMIM:301022
3-Hydroxyisobutyric Aciduria	Cerebral calcification, Hypogonadotropic hypogonadism, Triangular face, Microcephaly, Micrognathi...	ORPHA:939
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Prominent nasal bridge, Absent thumb, Carious teeth, Narrow ...	ORPHA:96097
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Syn...	OMIM:213980
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Thrombocytopenia, Decreased circulating antibody level, Leukope...	OMIM:618116
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero...	OMIM:235510
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang...	ORPHA:59315
Ohdo Syndrome	Small scrotum, Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Sparse...	OMIM:249620
Monosomy 9P	Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Anotia, High palate, Agenesis o...	ORPHA:261112
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Tra...	OMIM:613458
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Depressed nasal bridge, Microcephaly, Cryptorchidism, Polydactyly, Low-set ears, Con...	OMIM:616910
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Abnormality of the dentition, Short thumb, Oligodontia, Triphalangeal thumb, Small, conical teeth...	ORPHA:79499
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia...	OMIM:206920
Tarp Syndrome	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p...	OMIM:311900
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Prominent nose, Short metatarsal, Clitoral hypoplasia, Sparse hair, Long p...	OMIM:614813
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Single transverse palmar crease, Micrognathia, High, narrow palate, High pal...	OMIM:214100
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Bifid uvula, Ant...	ORPHA:404440
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Narrow face, Micrognathia, Short neck, Synophrys, Low anterior hairline, Downturned corners of mo...	ORPHA:391408
Robinow Syndrome, Autosomal Recessive 2	Micrognathia, Prominent fingertip pads, Broad hallux, Cleft soft palate, Anteverted nares, Gingiv...	OMIM:618529
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Anteverted nares, Slow-growing hai...	ORPHA:238468
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Synophrys, Generalized hirsutism, ...	ORPHA:1895
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Mitten d...	OMIM:609638
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Short metacarpal...	OMIM:616723
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Synophrys, Low anterior hairline,...	OMIM:617061
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Epicanthus, Downslanted palpebral fissures	ORPHA:238446
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Micrognathia, Neonatal death, Hepatomegaly, Anteverted nares, Depres...	OMIM:608013
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Rieger anomaly, Micrognathia, Underdeveloped nasal...	OMIM:269880
Chromosome 6Pter-P24 Deletion Syndrome	Skin tags, Tented upper lip vermilion, Dental crowding, Short neck, High palate, Clinodactyly of ...	OMIM:612582
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M...	ORPHA:137888
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Arthrochalasia Ehlers-Danlos Syndrome	Depressed nasal bridge, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microgna...	ORPHA:1899
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Cerebellar vermis hypoplasia, Microcephaly, Abnormality of the to...	ORPHA:370968
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Bilateral cryptorchidism, ...	OMIM:619859
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Short palm, Neonatal death, Hepatomegaly, Hamar...	OMIM:269860
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Microcephaly, Simple ear, Bilateral microphthalmos, Hirsutism, Hemivertebrae, Unil...	OMIM:619318
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, Short neck, High, narrow palate, Biliary atresia, ...	ORPHA:96149
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow	OMIM:606242
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Respiratory insufficiency, Long upper lip, Flat face, Dermal translucency, Hypoplast...	OMIM:615349
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Marshall Syndrome	Cerebral calcification, Micrognathia, Hypoplasia of the maxilla, High palate, Sparse hair, Thick ...	ORPHA:560
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal intervertebral disk morphology, An...	ORPHA:2701
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, High palate,...	OMIM:619775
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection...	OMIM:202700
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:615518
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand...	OMIM:200600
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, Deep philtrum, Synophrys, Protruding ear, Short philtrum, Joint ...	OMIM:620098
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Basal cell carcinoma,...	ORPHA:113
Bartsocas-Papas Syndrome 1	Skin tags, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Short neck, Hypopla...	OMIM:263650
Nicolaides-Baraitser Syndrome	Dry hair, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short met...	OMIM:601358
Fryns Syndrome	Bifid scrotum, Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse palmar cr...	OMIM:229850
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Depressed nasal bridge, Micrognathia, Missing ribs, Hemivertebrae, Cleft...	OMIM:220210
Alazami Syndrome	Wide nose, Depressed nasal bridge, Microcephaly, Wide nasal bridge, Wide mouth, Retractile testis...	OMIM:615071
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Short neck, Upper limb peromelia, Hypoplasia of the maxi...	ORPHA:1299
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Single transverse palmar crease, Prominent nose, Narrow greater sciatic notch, Dislocated radial ...	OMIM:617425
Holoprosencephaly 9	Anophthalmia, Hypoplasia of the maxilla, Partial agenesis of the corpus callosum, Single naris, S...	OMIM:610829
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab...	ORPHA:3246
Wieacker-Wolff Syndrome	Apnea, Proximal placement of thumb, Micrognathia, Short neck, High palate, Neonatal respiratory d...	OMIM:314580
Braddock-Carey Syndrome 2	Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the exter...	OMIM:619981
Alazami-Yuan Syndrome	Thin upper lip vermilion, Thick eyebrow, Dental crowding, Single transverse palmar crease, Broad ...	OMIM:617126
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,...	OMIM:601680
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Tented upper lip vermilion, Cerebellar vermis hypoplasia, High palate, Cavu...	OMIM:619383
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, Synophrys, Large fleshy ears, High palate, Gastroesophage...	ORPHA:280633
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Microcephaly, Broad nasal tip, Wide nasal bridge, Thin vermilion border, Everted lower lip vermil...	ORPHA:73273
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Micrognathia, Oral-pharyngeal dysphagia, Synophrys, Prominent protruding coccyx, Protruding ear, ...	ORPHA:480907
Temtamy Syndrome	Long face, Brachydactyly, Coarse facial features, Facial asymmetry, Micrognathia, Short toe, Thic...	ORPHA:1777
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, Webbed neck, Protruding ear, High pal...	ORPHA:261337
Tylosis With Esophageal Cancer	Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos...	OMIM:148500
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Preauricular pit, Low-set, posteriorly rotated ears, Brachydactyly, Abnormality of the philtrum, ...	ORPHA:1770
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Brachydactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormal...	ORPHA:3098
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Anteverted nares, Depressed nasal bridge, Pneumonia, Malabsorption, Micrognathia, Prot...	OMIM:242860
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Posteriorly rotated ears, 2-...	OMIM:619311
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ...	OMIM:612394
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Microcephaly, Metatarsus adductus, Hypoplasia...	ORPHA:293939
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
6Q16 Microdeletion Syndrome	Abnormal ear morphology, Anteverted nares, Depressed nasal bridge, Micrognathia, Tapered finger, ...	ORPHA:171829
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Large earlobe, Short columella, ...	OMIM:155050
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Round face, Abnormal intervertebral disk morphology, Depressed n...	ORPHA:2062
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Thick eyebrow, Round face, Anteverted nares, Posteriorly rotated ears, Micrognathia, Synophrys, W...	OMIM:602562
Hyperekplexia 4	Kyphoscoliosis, Cerebral atrophy, Respiratory failure, High palate, Talipes equinovarus, Camptoda...	OMIM:618011
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Oculofaciocardiodental Syndrome	Narrow face, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Sho...	ORPHA:2712
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Short neck, Wide...	ORPHA:93267
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Micrognathia, Large fleshy ears, High palate, Gastroesophageal reflux, Long philtrum, Anteverted ...	OMIM:614080
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Micrognathia, Prominent nose, Basal ganglia calcification, Abnormality ...	OMIM:214150
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn...	ORPHA:750
Renpenning Syndrome 1	Mandibular prognathia, Narrow face, Brittle hair, Micrognathia, Protruding ear, High palate, Shor...	OMIM:309500
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely...	ORPHA:363417
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Microcephaly, Underdeveloped nas...	ORPHA:77300
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Round face, Coxa valga, Genu valgum, Narrow mouth, Conductive hearing impai...	OMIM:132450
Silver-Russell Syndrome 2	Relative macrocephaly, Micrognathia, 2-3 toe syndactyly, Downturned corners of mouth, Thin skin, ...	OMIM:618905
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Wh...	OMIM:277720
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Square face, Anteverted nares, Optic ...	OMIM:615583
Cousin Syndrome	Micrognathia, Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Low anterior ...	OMIM:260660
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, Selective tooth agenesis, 1-4 finger ...	OMIM:225280
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Micrognathia, Protruding ear, High palate, Short philtrum, Hepatomegaly, Antever...	OMIM:618342
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Redundant skin, Micromelia, Hearing impairment, Kyphosis, Respiratory ins...	ORPHA:93274
Focal Facial Dermal Dysplasia 3, Setleis Type	Depressed nasal bridge, Bulbous nose, Low anterior hairline, Absent lower eyelashes, Sparse hair,...	OMIM:227260
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,...	OMIM:608184
Alpha-Mannosidosis	Mandibular prognathia, Short neck, Widely spaced teeth, Hypoplastic inferior ilia, Chronic otitis...	ORPHA:61
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormal pinna morphology, Micrognathia, Corpus callosum atrophy, Laryngotracheomalacia, Low ante...	ORPHA:480898
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Narrow face, Prom...	ORPHA:1225
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Acantholysis, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy...	ORPHA:158687
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Round face, Absent frontal sinuses, Palmoplantar keratoderma, Torus palatinus, Flat face	ORPHA:2536
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Charlie M Syndrome	Finger syndactyly, Micrognathia, Non-midline cleft lip, Split hand, Wide nasal bridge, Tooth agen...	ORPHA:1406
Al Kaissi Syndrome	High, narrow palate, Synophrys, Hemivertebrae, Depressed nasal bridge, Decreased head circumferen...	OMIM:617694
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Single transverse palmar crease, Micrognathia, Bifid uvula, Dislocated radial head, Long toe, Ara...	OMIM:130070
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93260
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Redundant skin, Micromelia, Hearin...	ORPHA:1860
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent...	OMIM:617780
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, High palate, Narrow greater sciatic notch, Conductive hearing impairment, Simple ea...	OMIM:602471
Trisomy 1Q	Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Small scro...	ORPHA:261344
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Synophrys, Subcortical cerebral atrophy, High palate, Lumbar hemivertebrae, Small hypothenar emin...	ORPHA:2463
Johanson-Blizzard Syndrome	Hypoplasia of penis, Anteriorly placed anus, Oligodontia, Microdontia, Abnormality of the female ...	ORPHA:2315
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Redundant neck skin, Proximal placement of thumb, Micrognathia, Short neck,...	OMIM:217980
Braddock-Carey Syndrome 1	Curly hair, Anteverted nares, Posteriorly rotated ears, Microcephaly, Hyperlordosis, Clinodactyly...	OMIM:619980
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Abnormal ...	ORPHA:261323
Immunodeficiency, Common Variable, 10	Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr...	OMIM:615577
Schilbach-Rott Syndrome	Hypospadias, Posteriorly rotated ears, Micrognathia, Microcephaly, Prominent nose, 2-3 toe cutane...	OMIM:164220
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Anteverted nares, Microcephaly, Posteriorly rotated ...	OMIM:618506
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor...	OMIM:606367
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Cortical dysplasia, Simplified gyral pattern, Micropenis, Hypospadias, Dep...	OMIM:300354
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal...	ORPHA:1352
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,...	OMIM:300972
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose, Distichi...	ORPHA:2598
2Q31.1 Microdeletion Syndrome	Narrow face, Micrognathia, Short neck, Deep philtrum, Abnormal tibia morphology, Synophrys, Low a...	ORPHA:251014
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Coarse facial features, Anteverted nares, Tapered finger, Broad...	OMIM:300602
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Narrow nasal ridge, Cryptorchidism, Hip dislocation, Cutis laxa, Tali...	OMIM:219150
Xeroderma Pigmentosum, Complementation Group F	Short stature, Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcino...	OMIM:278760
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Finger syndactyly, Epidermoid cyst, Conical tooth, Carious teeth, Bilater...	ORPHA:1997
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Broad nasal tip...	ORPHA:166016
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnormal f...	ORPHA:163649
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Narrow face, Micrognathia, High, narrow palate, Short philtrum, Microdontia...	ORPHA:2707
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges...	ORPHA:2547
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Anteverted nares, Posteriorly rotated ears, Micrognath...	OMIM:619941
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Alagille Syndrome	Hypoplasia of the ulna, Round face, Coarse facial features, Hepatomegaly, Micrognathia, Long nose...	ORPHA:52
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Thoracic scoliosis, Bilateral cleft lip, Short neck, Low-set ears, Cavum septum pellucidum, Flat ...	OMIM:616994
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Narrow face, Dental crowding, External genital hypoplasia, Convex nasal ridge, Micrognathia, Shor...	ORPHA:251028
Wiedemann-Steiner Syndrome	Synophrys, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Generalized hirs...	ORPHA:319182
Xeroderma Pigmentosum Variant	Melanoma, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:90342
Menke-Hennekam Syndrome 1	Short ear, Micrognathia, Deep philtrum, Depressed nasal ridge, Protruding ear, Cutaneous syndacty...	OMIM:618332
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Sh...	OMIM:609945
Isotretinoin Syndrome	Sacral dimple, Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Biparietal narrowing...	ORPHA:2305
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Low-set, posteriorly rotated ears, Micrognathia, Open bite, Carious teeth...	ORPHA:2617
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Monosomy 18P	Alopecia, Kyphoscoliosis, Micrognathia, Carious teeth, Microcephaly, Short neck, Wide nasal bridg...	ORPHA:1598
17P13.3 Microduplication Syndrome	Hypoplasia of penis, Congenital hip dislocation, Wide nose, Short neck, High palate, Hypoplasia o...	ORPHA:217385
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Dental crowding, Sandal gap, Recurrent shoulder dislocation, Thoracolumbar scolios...	ORPHA:230851
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Underdeveloped antitragus, Prominent nose, Glandular hypospadias, Abnormal caudate nucleus morpho...	ORPHA:293725
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Slender nose, Microcephaly, Micrognathia, Cryptorchidism, Wide mouth, G...	OMIM:615419
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Recurrent i...	OMIM:616576
Ring Chromosome 8 Syndrome	Anteverted nares, Low posterior hairline, Deviation of finger, Round ear, Short nose, Abnormal pa...	ORPHA:1450
Familial Supernumerary Nipples	Supernumerary nipple	ORPHA:2456
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Fatty Acyl-Coa Reductase 1 Deficiency	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Macroti...	ORPHA:438178
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Hip dislocation, Elbow flexion con...	ORPHA:75840
C Syndrome	Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, He...	OMIM:211750
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level	OMIM:152800
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Protruding ear, Hypoplasia of the brainstem, High palate, Abnormal fac...	ORPHA:481152
Neuropathy, Congenital Hypomyelinating, 3	Micrognathia, Microcephaly, Gingival overgrowth, Narrow palate, 2-3 toe syndactyly, Respiratory i...	OMIM:618186
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Short neck, Preaxial polydactyly, Narrow greater sciatic notch, Absent nasal bridge...	OMIM:617925
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Cutaneous ...	OMIM:114300
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Micrognathia, ...	ORPHA:435638
Acrofacial Dysostosis, Palagonia Type	Micrognathia, Short neck, High, narrow palate, Low anterior hairline, Abnormal form of the verteb...	ORPHA:1787
Osteoglophonic Dysplasia	Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, Short metatar...	OMIM:166250
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:603909
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Short neck, Low anterior hairline, Downturned corners of mouth, High palat...	ORPHA:369891
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Micrognathia, Corpus callosum atrophy, Low anterior hairline, Gingival overgrowth, Cerebral atrop...	OMIM:616875
Congenital Myopathy 19	Posteriorly rotated ears, Micrognathia, Respiratory insufficiency due to muscle weakness, Cryptor...	OMIM:618578
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Round face, Dental crowding, Posteriorly rotated ears, Apnea...	OMIM:602483
Mandibuloacral Dysplasia	Alopecia, Facial shape deformation, Dental crowding, Micrognathia, Abnormally large globe, Abnorm...	ORPHA:2457
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Uplifted earlobe, High palate, Short...	OMIM:616449
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Kniest Dysplasia	Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Cond...	OMIM:156550
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, High palate...	OMIM:619312
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Thoracomelic Dysplasia	Round face, Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum...	ORPHA:1803
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Broad skull, Gastroesophageal reflux, Co...	OMIM:600373
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin...	OMIM:137100
Filippi Syndrome	Ambiguous genitalia, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cryptorch...	OMIM:272440
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, ...	OMIM:619636
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Microcephaly, Sensorineural hearing impairment, Wide nasal bridge, Flat face, High ...	OMIM:607906
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Round face, Hypospadias, Depressed nasal bridge, Microcephaly, Focal polym...	OMIM:619103
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Opitz Gbbb Syndrome	Bifid scrotum, Micrognathia, Vertebral segmentation defect, High palate, Abnormal facial shape, A...	ORPHA:2745
De Barsy Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Coxa vara, High palate, Sparse hair, Em...	ORPHA:2962
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Short 4th toe, Pr...	OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 26	Anteverted nares, Decreased palmar creases, Depressed nasal bridge, Micrognathia, Microcephaly, H...	OMIM:615834
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Flat acetabular roof, Abnormal ...	ORPHA:1801
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Round face, Micromelia, Micrognathia, Short neck, Met...	OMIM:224400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Prominen...	OMIM:210710
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Thoracolumbar ky...	ORPHA:508533
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Broad hallux, Wide nasal ridge, Kyphoscoliosis, Microcephaly, High, narrow palate, Atlantoaxial a...	ORPHA:3433
Fanconi Anemia, Complementation Group L	Micrognathia, Short neck, Anotia, Micropenis, Esophageal atresia, Wide nasal bridge, Microtia, Lo...	OMIM:614083
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, Decr...	ORPHA:183675
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Pallister-Hall-Like Syndrome	Death in infancy, Median cleft lip, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognat...	OMIM:241800
Leukodystrophy, Hypomyelinating, 10	Triangular face, Arachnodactyly, Anteverted nares, Reduced cerebral white matter volume, Hypoplas...	OMIM:616420
Trisomy 18	Narrow face, Pointed helix, Bilateral single transverse palmar creases, Microretrognathia, Low-se...	ORPHA:3380
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
Cutis Laxa, Autosomal Recessive, Type Iiib	Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Pyloric stenosis, Crypto...	OMIM:614438
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Squamous cell carcinoma, Growth delay, Basal cell carcinoma, Nail...	ORPHA:79410
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Microg...	OMIM:618291
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short neck, Deep philtrum, Webbed neck, Coarse hair, Widely spaced teeth, High palate, Sparse hai...	OMIM:617506
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Rectourethral fistula, High palate...	OMIM:300000
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Ck Syndrome	Long toe, Microretrognathia, Narrow face, Lumbar hyperlordosis, Dental crowding, Prominent nasal ...	ORPHA:251383
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Abnormality of the nose, Whistling appearance, H...	ORPHA:1150
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger,...	OMIM:210720
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ...	OMIM:305400
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Thoracic ...	OMIM:309620
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Increased circulating IgG level,...	OMIM:209950
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Short neck, High palate, Biparietal narrowing, Sparse hair, Thicken...	ORPHA:1340
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Aplasia/Hypoplasia involving the nose, Abnormally ossified vertebrae, Micr...	ORPHA:3301
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Narrow face, Microcephaly, Hypoplasia of the maxilla, Macrotia, Decreased ...	ORPHA:93950
Autism Spectrum Disorder Due To Auts2 Deficiency	Anteverted nares, Decreased palmar creases, Highly arched eyebrow, Micrognathia, Microcephaly, Cr...	ORPHA:352490
Trisomy 20P	Micrognathia, Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Protrudin...	ORPHA:261318
Ruvalcaba Syndrome	Dental crowding, Proximal placement of thumb, Micromelia, Clinodactyly of the 5th finger, Abnorma...	ORPHA:3121
Leg, Absence Deformity Of, With Congenital Cataract	Duplication involving bones of the feet, Scoliosis, Anal atresia	OMIM:246000
Aredyld	Generalized hypotrichosis	OMIM:207780
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Autoimmune thrombocytopenia, Recurrent bacterial ...	OMIM:613496
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Meier-Gorlin Syndrome 3	Small scrotum, Micrognathia, Hypoplasia of the maxilla, Patellar hypoplasia, Coxa vara, Gastroeso...	OMIM:613803
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Thin upper lip vermilion, Cerebral white matter atrophy, Hepatomegaly, Elev...	ORPHA:329178
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Low anterior h...	ORPHA:99843
Chondrodysplasia Punctata 2, X-Linked Dominant	Short neck, Hemivertebrae, Sparse hair, Dandy-Walker malformation, Rhizomelia, Sparse eyebrow, Ep...	OMIM:302960
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Monosomy 22	Low-set, posteriorly rotated ears, Finger syndactyly, Wide nose, Single transverse palmar crease,...	ORPHA:96123
11Q22.2Q22.3 Microdeletion Syndrome	Thin upper lip vermilion, Brachydactyly, Thick eyebrow, Depressed nasal bridge, Posteriorly rotat...	ORPHA:444002
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Facial asymmetry, Tapered finger, Hypoplasia of the maxilla, Long fingers, Diffuse white matter a...	OMIM:218000
Mosaic Trisomy 1	Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Orofacial clef...	ORPHA:1692
Diaphanospondylodysostosis	Respiratory distress, Absent in utero ossification of vertebral bodies, Micrognathia, Short neck,...	OMIM:608022
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Short lingual frenulum, Downturned corners of mouth, Short philtrum, Gastroe...	OMIM:617360
Ring Chromosome 13 Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, High palate, Short phil...	ORPHA:96176
Weiss-Kruszka Syndrome	Preauricular pit, Exaggerated cupid's bow, Single transverse palmar crease, Proximal placement of...	OMIM:618619
Ring Chromosome 10 Syndrome	Sandal gap, Aganglionic megacolon, Tapered finger, Micrognathia, Short neck, Wide nasal bridge, A...	ORPHA:1438
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Low anterior hairlin...	ORPHA:861
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, 1-4 toe syn...	OMIM:617201
Cornelia De Lange Syndrome 2	Limited elbow movement, Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Low ant...	OMIM:300590
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Death...	ORPHA:1507
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia mo...	ORPHA:2879
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Single transverse palmar crease, Prominent nasal bridge, Short neck, Cryp...	ORPHA:178148
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th...	OMIM:613026
Barber-Say Syndrome	Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair...	OMIM:209885
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Squamous cell carcinoma	OMIM:618373
Tetraploidy	Microcephaly, Micrognathia, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing,...	ORPHA:3305
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Micrognathia, Synophrys, Protruding ear, High palate, Short philtrum, Gastroesophageal reflux, Cl...	OMIM:618443
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Posteriorly rotated ears, Highly arched eyebrow, Microcephaly, Asymmetric, linear ski...	OMIM:300887
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Short neck, Kyp...	ORPHA:238750
Terminal Osseous Dysplasia	Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Accessory oral frenulum, Ab...	OMIM:300244
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Abnormality of the dentition, Depres...	ORPHA:1810
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Micrognathia, Promine...	OMIM:609625
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Bulbous nose, Dysphagia, Talipes equinovarus, Hypoplasia of...	OMIM:617695
Frank-Ter Haar Syndrome	Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Abnormally large glo...	OMIM:249420
Cerebrofacioarticular Syndrome	Irregular dentition, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the maxilla, Anter...	ORPHA:314679
Chromosome 9P Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Micropenis, Long toe, ...	OMIM:158170
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,...	ORPHA:158057
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, High palate, Hepatomegaly, Anteverted nares, Thick vermilion border, Scoliosis, ...	OMIM:616354
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Neonatal respiratory distress, Depressed nasal bridge, Optic nerve hypoplasia, Pro...	OMIM:618828
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Microcephaly, Broad nasal tip, Cleft lip, Synophrys, Cleft palate, Low ...	OMIM:300263
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ...	ORPHA:221139
Tetrasomy 18P	Low-set, posteriorly rotated ears, Facial asymmetry, Microcephaly, Large hands, Thin vermilion bo...	ORPHA:3307
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Narrow face, Anteverted nares, Micro...	ORPHA:1915
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Genu...	ORPHA:1035
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Thin upper lip vermilion, Broad hallux, Overlapping toe, Sandal gap, Micrognathia, Microcephaly, ...	OMIM:617755
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Short neck, Protruding ear, High palate, Long face, Highly arched eyebrow, Tapered finger, Crypto...	OMIM:617452
Werner Syndrome	Sparse scalp hair, Renal neoplasm, Acral lentiginous melanoma, Short stature, Abnormal hair whorl...	ORPHA:902
Global Developmental Delay With Speech And Behavioral Abnormalities	Thin upper lip vermilion, Supernumerary nipple, Microcephaly, Micrognathia, Precocious puberty, C...	OMIM:619243
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Richieri Costa-Da Silva Syndrome	Kyphoscoliosis, Abnormality of the dentition, Metatarsus adductus, Short neck, Low anterior hairl...	ORPHA:3101
Cog1-Cdg	Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Micrognathia, Short neck, Vertebr...	ORPHA:263508
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Micropeni...	OMIM:617063
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Single transverse palmar ...	ORPHA:96334
Marden-Walker Syndrome	Micrognathia, Short neck, High, narrow palate, Hypoplasia of the brainstem, Zollinger-Ellison syn...	OMIM:248700
16P12.1P12.3 Triplication Syndrome	Bilateral cryptorchidism, High, narrow palate, Abnormal intrahepatic bile duct morphology, Promin...	ORPHA:485405
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Congenital hip dislocation, Cerebellar vermis hypoplasia, Prominent nose, A...	ORPHA:480880
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Dystrophic fingernails, Papule, Finger synda...	ORPHA:2907
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Arterial Tortuosity Syndrome	Arachnodactyly, Convex nasal ridge, Hiatus hernia, Micrognathia, Cutis laxa, High palate, Ischemi...	OMIM:208050
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Thick hair, Micro...	ORPHA:2107
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Antever...	OMIM:227330
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Hypointensity of cerebral white matter on MRI, Broad hallux, Depressed nasal bridge, Short neck, ...	OMIM:300860
Trisomy 18P	Abnormal pinna morphology, Highly arched eyebrow, Micrognathia, Microcephaly, High, narrow palate...	ORPHA:1715
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Rafiq Syndrome	Prominent nose, Short neck, Short philtrum, Clinodactyly of the 5th finger, Long face, Highly arc...	OMIM:614202
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab...	OMIM:301000
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflu...	OMIM:618494
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Narrow face, Single transverse palmar crease, Micrognathia, D...	OMIM:620186
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short...	OMIM:252100
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Conductive hearing impairment, Spina bifida occulta, Hypopla...	OMIM:150250
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism, Wide nasal b...	OMIM:615524
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys...	OMIM:602535
Pontocerebellar Hypoplasia, Type 1C	Cerebellar vermis hypoplasia, Respiratory insufficiency, Respiratory failure, Tongue fasciculatio...	OMIM:616081
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Relative macrocephaly, Metaphyseal dysplasia, Hypospadias, Posteriorly rotated ears, Microcephaly...	OMIM:618336
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Microcephaly, Split hand, Wide nasal bridge, Neuronal loss ...	ORPHA:168486
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Kagami-Ogata Syndrome	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valga, Micrognathia,...	OMIM:608149
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Coarse facial features, Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Sensorin...	OMIM:612938
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical...	OMIM:613573
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, Low anterior hairline,...	ORPHA:420561
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Scoliosis, High palate, Hypoplasia of the corpus callosum	OMIM:611225
Crisponi Syndrome	Large face, Death in infancy, Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia,...	ORPHA:1545
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T...	OMIM:603554
Burn-Mckeown Syndrome	Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un...	OMIM:608572
Chromosome 3Q29 Deletion Syndrome	Thin upper lip vermilion, Narrow face, Posteriorly rotated ears, Prominent nasal bridge, Tapered ...	OMIM:609425
3Q29 Microdeletion Syndrome	Narrow face, Dental crowding, Orofacial cleft, Short philtrum, High palate, Gastroesophageal refl...	ORPHA:65286
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Microcephaly, Bro...	OMIM:614749
Meier-Gorlin Syndrome 6	Tracheobronchomalacia, Depressed nasal ridge, Simplified gyral pattern, Gastroesophageal reflux, ...	OMIM:616835
Meckel Syndrome, Type 8	Anophthalmia, Microcephaly, Cleft upper lip, Short neck, Depressed nasal ridge, Cleft palate, Pol...	OMIM:613885
Warburg-Cinotti Syndrome	Hypoplasia of the ear cartilage, Dental crowding, Posteriorly rotated ears, Underdeveloped nasal ...	OMIM:618175
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm...	ORPHA:1277
Baraitser-Winter Syndrome 1	Short neck, Orofacial cleft, Micropenis, Pachygyria, Agenesis of corpus callosum, Anteverted nare...	OMIM:243310
Meier-Gorlin Syndrome 8	Micrognathia, Bilateral cryptorchidism, Microtia, Thick vermilion border, Low-set ears, Narrow mouth	OMIM:617564
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Meningeal calcification, Clinodactyly of the 5th finger, Sm...	OMIM:154780
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Submucous cleft h...	ORPHA:2250
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Depressed nasal brid...	OMIM:613443
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Widely spaced teeth, Conducti...	OMIM:106260
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Apnea, Single transverse palmar crease, Micrognathia, High palate, Re...	OMIM:617527
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	ORPHA:2554
Dermoodontodysplasia	Mandibular prognathia, Sparse scalp hair, Melanocytic nevus, Tooth agenesis, Thin skin, Trichodys...	ORPHA:1660
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Micromelia, Apnea, Eryth...	OMIM:610015
Meier-Gorlin Syndrome 5	Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epip...	OMIM:613805
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Microcephaly, Anteverted ears, Wi...	ORPHA:544254
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Tooth agen...	OMIM:605676
19P13.12 Microdeletion Syndrome	Short neck, Synophrys, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger,...	ORPHA:254346
Elsahy-Waters Syndrome	Mandibular prognathia, Bifid scrotum, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synoph...	OMIM:211380
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Microcephaly, Underdeveloped nas...	OMIM:616549
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Recessive Dystrophic Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Growth delay, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, ...	ORPHA:79409
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Short ribs, Absent or minima...	OMIM:600972
Menke-Hennekam Syndrome 2	Narrow nasal bridge, Thin upper lip vermilion, Square face, Duodenal ulcer, Overlapping toe, Sand...	OMIM:618333
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Round face, Anteverted nares, Hypospadias, Narrow mouth, Depressed nasa...	ORPHA:1355
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Round face, Hypospadias, Anteverted nares, Depressed nas...	OMIM:614613
Hall-Riggs Syndrome	Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microcephaly, Prominent nose, Ky...	OMIM:234250
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Agenesis of corpus callos...	OMIM:613091
Three M Syndrome 2	Delayed eruption of teeth, Relative macrocephaly, Scapular winging, Prominent nasal tip, Antevert...	OMIM:612921
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Coarse facial features, Coxa valga, Protruding tongue, Thoracolumbar kyphosis, Sple...	OMIM:230600
Coffin-Siris Syndrome 2	Low anterior hairline, High palate, Short philtrum, Dandy-Walker malformation, Anteverted nares, ...	OMIM:614607
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Depressed nasal ridge, Gastroesophageal reflux, ...	ORPHA:847
Ayme-Gripp Syndrome	Mandibular prognathia, Depressed nasal bridge, Tapered finger, Wide nasal bridge, Microtia, Low-s...	OMIM:601088
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Squamous cell carcinoma, Melanoma, Nail dystrophy, Abnormality of...	ORPHA:678
Tetralogy Of Fallot	Preauricular pit, Abnormal nasal morphology, Cryptorchidism, Thin vermilion border, Clinodactyly ...	ORPHA:3303
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Microcephaly, Split hand, Wide nasal bridge, Cerebral atrophy, Respiratory insufficiency, ...	OMIM:610127
Fetal Trimethadione Syndrome	Hypospadias, Depressed nasal bridge, Microcephaly, Micrognathia, Synophrys, Overfolded helix, Hig...	ORPHA:1913
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Short stature, Fine hair, Squamous cell carcinoma, Fragile nails, Ba...	OMIM:601675
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Bulbous nose, Small hand, Short foot, Thin vermilion border, Hypogonadism, Sparse...	ORPHA:261483
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Depressed nasal bri...	OMIM:619736
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered finger, Flatte...	ORPHA:157965
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill...	ORPHA:79124
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Oral leukoplakia	OMIM:615735
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Cryptorchidism, Abnormal sacrum mo...	ORPHA:1926
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, M...	OMIM:613603
Restrictive Dermopathy 1	Micrognathia, Overtubulated long bones, Scaling skin, Neonatal death, Hypospadias, Depressed nasa...	OMIM:275210
Peho-Like Syndrome	Tapered finger, Short nose, Retrognathia, Lissencephaly, Hypoplasia of the corpus callosum, Open ...	OMIM:617507
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Meckel Syndrome, Type 1	External genital hypoplasia, Micrognathia, Short neck, Asplenia, Ambiguous genitalia, female, Lob...	OMIM:249000
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog...	ORPHA:2878
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femu...	ORPHA:2063
Aymé-Gripp Syndrome	Oligodontia, Clinodactyly of the 5th finger, Depressed nasal bridge, Tapered finger, Cryptorchidi...	ORPHA:1272
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Anteverted nares, Micrognathia, Prominent nose, Sensorineural hea...	OMIM:154230
Pachyonychia Congenita 1	Follicular hyperkeratosis, Oral leukoplakia, Palmoplantar hyperkeratosis	OMIM:167200
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Postauricular pit, Vertebral segmentation de...	OMIM:312870
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Flattened epiphysis, Cl...	OMIM:222600
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Cryptorchidism, Short nose, Wide na...	OMIM:618577
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Low anteri...	OMIM:619950
Distal Deletion 9P	Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the dentition, Short neck, High, n...	ORPHA:1642
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, Protruding ...	OMIM:268305
Bresek Syndrome	Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Microcephaly, Crypto...	ORPHA:85284
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Bowing of the legs, Limb undergrowth, Limited elbow extension, Flat face	ORPHA:156728
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Anteverted nares, Tapered finger, Broad nasal tip, Cryptorchidism, Synophrys, Recurrent upper res...	ORPHA:589905
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Respiratory distress, Subcutaneous nodule, Anteriorly placed anus, Thickened helic...	ORPHA:1555
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Depressed nasal bridge, Single transverse palmar crease, Highly arched eyebrow, Mic...	OMIM:617412
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Oligodontia, Aplasia of the distal phalanx of the 5th fing...	ORPHA:364577
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Redundant skin, Hypoplasia of the maxilla, Sparse hair, Microdontia, Absent ...	ORPHA:920
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Congenital Disorder Of Glycosylation, Type Iie	Micrognathia, Short neck, Low anterior hairline, Gastroesophageal reflux, Death in infancy, Hepat...	OMIM:608779
Joubert Syndrome 37	Hepatomegaly, Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Posteriorly rotated ears...	OMIM:619185
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Prominent nose, Long nose, Sho...	ORPHA:2636
Maternal Uniparental Disomy Of Chromosome X	Depressed nasal bridge, Camptodactyly of finger, Rocker bottom foot, Microcephaly, Short neck, Go...	ORPHA:261519
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr...	ORPHA:193
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Micrognathia, Microcephaly, Splenomegaly, Depressed...	ORPHA:1046
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Abn...	OMIM:225060
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Choanal atresia, Micrognathia, Cleft upper lip, Absent external...	OMIM:273395
Satb2-Associated Syndrome Due To A Pathogenic Variant	Thin upper lip vermilion, Abnormality of the hand, Abnormality of the dentition, Celiac disease, ...	ORPHA:576283
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Narrow nasal tip, Microcephaly, Absent eyelashes, Sparse eyebrow, Bird-...	ORPHA:2985
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Hypoplasia of penis, Micrognathia, Short neck, Conductive hearing impairme...	ORPHA:3082
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Short neck, Bilateral cleft lip and palate, Flat face, Clin...	ORPHA:2001
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Wide nose, Cerebral calcification, Rocker bottom foot, 4...	ORPHA:89844
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Gastroesophageal reflux, Lo...	OMIM:619833
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Short philtrum, Abnormal facial shape, Low-...	ORPHA:371364
Moynahan Syndrome	Sparse hair, Alopecia, Short stature	ORPHA:2574
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal irregularity,...	ORPHA:457395
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Mandibular prognathia, Beaking of vertebral bodies, Coarse facial feat...	ORPHA:137834
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Sandal gap, Anteverted nares, Poster...	OMIM:617877
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Low anterior hairline, Hi...	OMIM:608156
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Proximal placement of thumb, Short neck, Sparse hair, Long philtrum, Thora...	OMIM:212066
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Cerebral white matter atrophy, Tented upper lip vermilio...	ORPHA:521426
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Dental crowding, Cleft ala nasi, Anophthalmia, Orofacial clef...	ORPHA:2052
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Anteriorly placed anus...	OMIM:239300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Broad nasal tip, Wide nasal b...	OMIM:615716
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Simplified gyral pattern, Oligodontia, High palate, Clino...	OMIM:613823
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Otofaciocervical Syndrome	Preauricular pit, Scapular winging, Anteverted nares, Down-sloping shoulders, Depressed nasal bri...	ORPHA:2792
Insulin-Like Growth Factor I, Resistance To	Micrognathia, Synophrys, High palate, Abnormal facial shape, Long philtrum, Highly arched eyebrow...	OMIM:270450
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Pa...	ORPHA:2251
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Thin upper lip vermilion, Hip contracture, Anteverted nares, Prominent nasal bridge, Posteriorly ...	OMIM:616801
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Gastroesoph...	OMIM:616580
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Wide nose, Toe syndactyly, Hypospadias, Highly arched eyebrow, Micro...	ORPHA:2319
Coffin-Lowry Syndrome	Redundant skin, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear,...	ORPHA:192
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:1488
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Uplifted earlobe, Tapered finger, Abnormality of the dentition, Microcephaly, Precoc...	ORPHA:261652
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Depressed nasal bridg...	ORPHA:2635
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Spl...	OMIM:226990
Oliver-Mcfarlane Syndrome	Alopecia, Severe short stature, Long eyebrows, Long eyelashes, Delayed puberty, Sparse hair	OMIM:275400
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Downturned corners of mouth, Small earlobe, Agenesis of corpus callosum...	OMIM:264090
Hennekam Syndrome	Abnormal oral mucosa morphology, Short philtrum, Conductive hearing impairment, Abnormal facial s...	ORPHA:2136
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Long philtrum, Sho...	OMIM:258480
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Numerous nevi, Micrognathia, Short neck, Deep philtrum, ...	OMIM:115150
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Micrognathia, Synophrys, Shoulder dislocation, High palate, Conductiv...	ORPHA:536545
Cerebrooculofacioskeletal Syndrome 4	Micrognathia, Simplified gyral pattern, Short philtrum, Death in childhood, Wrist flexion contrac...	OMIM:610758
Winchester Syndrome	Coarse facial features, Kyphosis, Subcutaneous nodule, Gingival overgrowth, Osteolysis involving ...	OMIM:277950
Carey-Fineman-Ziter Syndrome	Cerebral calcification, Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Microce...	ORPHA:1358
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th...	OMIM:615485
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Short phi...	ORPHA:3258
Acrofacial Dysostosis, Catania Type	Coarse hair, Short palm, Clinodactyly of the 5th finger, Spina bifida occulta, Bilateral single t...	ORPHA:1786
Crisponi/Cold-Induced Sweating Syndrome 1	Micrognathia, Short neck, High palate, Short palm, Large face, Anteverted nares, Depressed nasal ...	OMIM:272430
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ...	ORPHA:819
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Ileal atresia, Micrognathia, Protruding ear, Micropenis, Agenesis of c...	OMIM:618820
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ...	ORPHA:280
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short n...	OMIM:113620
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Anorectal anomaly, V...	ORPHA:887
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Abnormality of the liver, High palate, Abnormality of th...	ORPHA:84
Mcdonough Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Open bite, Cryptorchidism...	ORPHA:2471
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Microcephaly, Cryptorchidism, Orofacial cleft, Split foo...	ORPHA:3434
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Micrognathia, Short neck, Calcaneovalgus defo...	OMIM:615065
Semilobar Holoprosencephaly	Depressed nasal ridge, Single naris, High palate, Gastroesophageal reflux, Aspiration pneumonia, ...	ORPHA:220386
Alobar Holoprosencephaly	Depressed nasal ridge, Single naris, High palate, Gastroesophageal reflux, Aspiration pneumonia, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depressed nasal ridge, Single naris, High palate, Gastroesophageal reflux, Aspiration pneumonia, ...	ORPHA:93926
Lobar Holoprosencephaly	Depressed nasal ridge, Single naris, High palate, Gastroesophageal reflux, Aspiration pneumonia, ...	ORPHA:93924
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Micromelia, Micrognathia, Short neck, High, narrow ...	ORPHA:3015
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, Aplasia of the distal phalanx o...	OMIM:608670
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, Basal ganglia calcification, High palate, Joint contracture o...	OMIM:164200
Oculodentodigital Dysplasia	Mandibular prognathia, Cerebral calcification, Brittle hair, Micrognathia, Abnormality of the ear...	ORPHA:2710
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Promine...	OMIM:618356
Coffin-Siris Syndrome 3	High palate, Dandy-Walker malformation, Anteverted nares, Depressed nasal bridge, Thick vermilion...	OMIM:614608
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Clinodactyly, Recurrent ...	ORPHA:391372
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Prominent nose, Short neck, Low anterior hair...	OMIM:601808
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Coarse facial features, Anteverted nares, Micrognathia, Microcephaly...	OMIM:619356
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Respiratory distress, Depressed nasal bridge, Micromelia, Post...	OMIM:617895
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape...	OMIM:271665
Cat-Eye Syndrome	Preauricular pit, Hip dysplasia, Microphthalmia, Preauricular skin tag, Anal atresia, Hearing imp...	ORPHA:195
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Tachypnea, Protruding ear, Finger clinodactyly, High palate, Conductive hear...	ORPHA:2751
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Hy...	OMIM:154400
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Depressed nasal bridge, Microg...	OMIM:608799
Van Esch-O'Driscoll Syndrome	Sacral dimple, Hypogonadotropic hypogonadism, Depressed nasal bridge, Microcephaly, Esophageal at...	OMIM:301030
Man1B1-Cdg	Prominent nose, Short neck, Short philtrum, Clinodactyly of the 5th finger, Abnormal facial shape...	ORPHA:397941
Dermatosparaxis Ehlers-Danlos Syndrome	Depressed nasal bridge, Coxa valga, Hiatus hernia, Avascular necrosis of the capital femoral epip...	ORPHA:1901
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Microcephaly, Flared nostrils, Wide nasal bridge, Cerebral atrophy, Apneic epis...	OMIM:312170
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Short neck, Cleft lip, Deep philtrum, Bulbous nose, Wide nasa...	OMIM:618571
Immunodeficiency 68	Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnor...	OMIM:612260
Kapur-Toriello Syndrome	Single transverse palmar crease, Short neck, Conductive hearing impairment, Micropenis, Pachygyri...	OMIM:244300
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long nose, High palate, Short philtrum, Anteverted nares, Depressed nasal bridge, Highly arched e...	OMIM:615866
Three M Syndrome 1	Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Sp...	OMIM:273750
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Microcephaly, Cleft upper lip, Short neck, Cupped ear, Clef...	OMIM:609654
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Synophrys, Protruding ear, Downturned corners of mouth, High pal...	OMIM:618950
19P13.13 Microdeletion Syndrome	Clinodactyly, High palate, Abnormal facial shape, Long face, Anteverted nares, Depressed nasal br...	ORPHA:357001
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Microcephaly,...	ORPHA:2719
Intellectual Developmental Disorder, Autosomal Recessive 44	Anteverted nares, Depressed nasal bridge, Thin vermilion border, Shawl scrotum, Bifid uvula, Long...	OMIM:615942
Holoprosencephaly 7	Partial agenesis of the corpus callosum, Synophrys, Hypoplasia of the brainstem, Hypoplastic nasa...	OMIM:610828
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Convex nasal ridge, Abnormal fingertip morphology,...	ORPHA:90154
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Syndactyly, Palmoplantar keratoderma, Follicular hyperkeratosis, Sparse...	OMIM:613576
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Microcephaly, Widely spaced te...	OMIM:619694
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Limited elbow movement, Prominent nose, Synophrys, Pugilistic facies,...	OMIM:300280
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Brachydactyly, Neonatal respiratory distress, Anteverted nares, Depr...	OMIM:618961
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects	Thin upper lip vermilion, Broad nasal tip, Dysphagia, High palate, Hypoplasia of the corpus callo...	OMIM:615075
Koolen-De Vries Syndrome	High, narrow palate, Protruding ear, Vertebral segmentation defect, Microdontia, Thick nasal alae...	ORPHA:96169
Ablepharon-Macrostomia Syndrome	Redundant skin, Anteriorly placed anus, Cutaneous finger syndactyly, Clinodactyly of the 5th fing...	OMIM:200110
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal r...	ORPHA:79345
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Erythema, Abnormality of the elbow, Palmoplantar hyperkeratosis, Erythemato...	ORPHA:158673
3M Syndrome	Congenital hip dislocation, Micromelia, Hypoplastic ischia, Short neck, Increased vertebral heigh...	ORPHA:2616
Orofaciodigital Syndrome Type 5	High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ...	ORPHA:2919
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Single transverse palmar crease, Micromelia, Finger joint hypermobility, Long philtrum, Microretr...	OMIM:618870
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Skin tags, Respiratory distress, Redundant skin, Tibial bowing, Femoral bowing, Gastroesophageal ...	OMIM:616482
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Genu valgum, An...	ORPHA:1381
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Micrognathia, Short neck, Calcaneovalgus deformity, High palate, Gastroesophageal reflux, Ulnar d...	ORPHA:562528
Warburg Micro Syndrome 3	Decreased testicular size, Small scrotum, Kyphoscoliosis, Micrognathia, Microcephaly, Hypoplastic...	OMIM:614222
Ehlers-Danlos Syndrome, Periodontal Type, 1	Alveolar bone loss around teeth, Arachnodactyly, Hiatus hernia, Intestinal perforation, Atrophic ...	OMIM:130080
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Short lingual frenulum, Bowed humer...	OMIM:619479
Turnpenny-Fry Syndrome	Mandibular prognathia, Numerous nevi, Cerebellar vermis hypoplasia, Dental crowding, Prominent in...	OMIM:618371
Prader-Willi Syndrome Due To Translocation	Respiratory distress, External genital hypoplasia, Micrognathia, Prominent nose, Short neck, Down...	ORPHA:177907
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Macroglossia, Flared elbow metaphyses, Limb under...	ORPHA:1423
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Thoracic scoliosis, Micrognathia, Hypoplasia of the pons, Microcephaly, Partial agenesis of the c...	OMIM:616171
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Beare-Stevenson Cutis Gyrata Syndrome	Skin tags, Bifid scrotum, Respiratory distress, Redundant neck skin, Anteriorly placed anus, High...	OMIM:123790
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of...	ORPHA:370010
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of...	OMIM:305100
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu...	OMIM:135100
Omodysplasia 2	Tented upper lip vermilion, Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Gastroesoph...	OMIM:164745
Cri-Du-Chat Syndrome	Narrow face, Single transverse palmar crease, Short neck, Short metatarsal, Orofacial cleft, Down...	OMIM:123450
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Elbow...	OMIM:618414
Schneckenbecken Dysplasia	Short neck, Snail-like ilia, Dumbbell-shaped long bone, Advanced tarsal ossification, Flat acetab...	OMIM:269250
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Microcephaly, Micrognathia, Cryptorchidism, Wide nasal bridge, Short middle phalanx ...	OMIM:612626
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath...	OMIM:620369
Hypertelorism-Microtia-Facial Clefting Syndrome	Microcephaly, Bifid nasal tip, Thenar muscle atrophy, Microtia, Bifid nose, Atresia of the extern...	ORPHA:2213
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Microcephaly, High, narrow palate, Abnormal 5th finger morpholo...	ORPHA:1439
Micro Syndrome	Hypoplasia of penis, Cerebellar vermis hypoplasia, Micrognathia, Clitoral hypoplasia, High palate...	ORPHA:2510
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Dental crowding, Oral-pharyngeal dysphagia, Long nose, Oligodontia, Short palm, Lon...	OMIM:619184
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Low anterior hairline, Downturned co...	ORPHA:955
Microtriplication 11Q24.1	Attached earlobe, Short neck, Synophrys, Short philtrum, Clinodactyly of the 5th finger, Abnormal...	ORPHA:289522
Dermoodontodysplasia	Dry skin, Hypodontia, Thin skin, Trichodysplasia	OMIM:125640
Kabuki Syndrome 1	Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear, High palate, Promi...	OMIM:147920
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Thin upper lip vermilion, Probst bundles, Respiratory distress, Sa...	OMIM:612863
Yunis-Varon Syndrome	Redundant neck skin, Congenital hip dislocation, Single transverse palmar crease, Cerebellar verm...	OMIM:216340
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Anteverted nares, Tapered finger, Basal ganglia calcification, Bulbou...	OMIM:616505
12Q14 Microdeletion Syndrome	Wide nose, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Microcephaly, Abnormalit...	ORPHA:94063
Trisomy 10P	Micrognathia, Hemivertebrae, Simplified gyral pattern, Orofacial cleft, Abnormality of the ear, H...	ORPHA:171929
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Uplifted earlobe, Micrognathia, High palate, Triphalangeal thumb, Dea...	OMIM:618580
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp...	OMIM:618363
Pontocerebellar Hypoplasia, Type 13	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Macrodontia, Single transverse palmar cre...	OMIM:618606
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Depressed nasal bridge, Non-midline cleft lip, Split hand, Cle...	ORPHA:2117
Desmosterolosis	Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posterio...	ORPHA:35107
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Microcephaly, Narrow mo...	OMIM:615502
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate, Respiratory insufficiency, Hepatomegaly	ORPHA:2432
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Coarse facial features, Tapered finger, Microc...	OMIM:301900
Pallister-Hall Syndrome	Small scrotum, Depressed nasal ridge, Hemivertebrae, Micropenis, Bifid uvula, Aplasia/hypoplasia ...	ORPHA:672
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Round face, Wide nasal ridge, Cryptorchidism, Macrocephaly, Anteriorly pla...	OMIM:618786
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Cat-Eye Syndrome (Type I)	Preauricular pit, Preauricular skin tag, Anal atresia, Micrognathia	DECIPHER:42
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Fetal Hydantoin Syndrome	Bifid scrotum, Low-set, posteriorly rotated ears, Abnormal pinna morphology, Microcephaly, Crypto...	ORPHA:1912
Aminopterin Syndrome Sine Aminopterin	Thoracic scoliosis, Micrognathia, Oligodontia, High palate, Abnormal facial shape, Syndactyly, Ru...	OMIM:600325
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Respiratory insufficiency, Tibial bowing, Abnormal pelvic ...	OMIM:166210
Recombinant Chromosome 8 Syndrome	Micrognathia, Downturned corners of mouth, Clinodactyly of the 5th finger, Anteverted nares, Depr...	OMIM:179613
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Short neck, Kyphosis, Biliary ...	ORPHA:3191
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Tented upper lip vermilion, Anteverted nares, Depressed na...	ORPHA:314655
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Microcephaly, Abnormality of the nose, Cleft lip, Single naris...	OMIM:142945
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Protruding ear, High palate, Biparietal narrowing, Chr...	ORPHA:261250
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of the h...	ORPHA:94066
Fanconi Anemia, Complementation Group S	Coarse facial features, Macrodontia, Anteverted nares, Proximal placement of thumb, Microcephaly,...	OMIM:617883
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Alopecia, Brittle hair, Dental crowding, Narrow nasal ridge, Micrognath...	OMIM:608612
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, High palate, Wide...	OMIM:143095
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, ...	OMIM:108720
C Syndrome	Redundant skin, Micromelia, Micrognathia, Short neck, High palate, Biparietal narrowing, Clinodac...	ORPHA:1308
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Cleft soft palate, Anteverted nares, Microcephaly, Micrognathia, Cryptorchidism, Mal...	ORPHA:2282
Aarskog-Scott Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short pa...	ORPHA:915
Trisomy 13	Anophthalmia, High, narrow palate, Bilateral single transverse palmar creases, Preauricular pit, ...	ORPHA:3378
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of th...	ORPHA:3107
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Musculocontractural Ehlers-Danlos Syndrome	Redundant skin, Decreased palmar creases, Cervical kyphosis, Protruding ear, High palate, Abnorma...	ORPHA:2953
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair	OMIM:618625
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Depressed nasal bridge, Microcephaly, Kyphosis, Small hand, Hip dislocation, Short foot, Gastroes...	OMIM:300434
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Round face, Abnormal pinna morphology, Tapered finger, Microcephaly, Sy...	ORPHA:352530
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Optic nerve hypoplasia, Anteverted nares, Micrognathia, Microcephaly, ...	OMIM:222765
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment, Cleft palate, Platyspondyly, Abnorma...	ORPHA:90653
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, Microcephaly, Micrognathia, Velopharyngeal insufficiency, Depressed na...	OMIM:608363
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Microcephaly, Kyphosis...	ORPHA:261144
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Short neck, Simplified gyral pattern, Neonatal death, Short tibia, Hume...	OMIM:251230
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, External genital hypoplasia, Proximal placement of thumb, Absent t...	OMIM:613390
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Harrod Syndrome	Narrow face, Arachnodactyly, Hypospadias, Microcephaly, Long nose, Cryptorchidism, Kyphosis, Dent...	ORPHA:2115
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:3201
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Frontal open bite, Micrognathia, Spontaneous neonatal pneumothorax, Short toe, Gi...	OMIM:225410
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi...	OMIM:602875
Syndromic X-Linked Intellectual Disability 7	Short stature, Sparse body hair	ORPHA:85274
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, M...	OMIM:614744
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Low anterior hairline, Partial duplication of the distal ph...	OMIM:101400
Microcephaly 6, Primary, Autosomal Recessive	Bifid nasal tip, Small cerebral cortex, Microtia, Microcephaly	OMIM:608393
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Prominent nose, Vertebral segmentation defect, Biparietal narrowing, Sparse hair, Clinodactyly of...	ORPHA:1005
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Pho...	ORPHA:2538
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A...	OMIM:619797
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Narrow face, Abnormality of thumb phalanx, Micrognathia, Rectal ...	ORPHA:235
Trigonocephaly 1	Microcephaly, High, narrow palate, Synophrys, Long penis, Wide nasal bridge, Lumbar hemivertebrae...	OMIM:190440
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hearing impairment, Hypoplasia of the maxilla, Abnormal hair whorl, Short nose, Simpli...	OMIM:614261
Miller-Dieker Syndrome	Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Lissencephaly, Hypoplasia of the ...	ORPHA:531
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Abnormality of the dentition, Microcephaly, Prominent nose, Synophrys, 2-3 toe sy...	ORPHA:391307
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, High palate, Macrovesicular hepatic steatosis, Agenesis of corpus callosum, Long toe, Deat...	OMIM:608836
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f...	OMIM:601349
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Small scrotum, Micrognathia, Short neck, Widely-spaced maxillary cent...	OMIM:309580
Shprintzen Omphalocele Syndrome	Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge...	OMIM:182210
Buratti-Harel Syndrome	Broad hallux, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Velopharyngeal insufficiency...	OMIM:619314
Seckel Syndrome 1	Cerebellar vermis hypoplasia, Dental crowding, Selective tooth agenesis, Single transverse palmar...	OMIM:210600
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Nail dystrophy, Squamous cell carcinoma	OMIM:615225
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Elbow ...	ORPHA:93329
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis	OMIM:617526
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo...	OMIM:618282
Blepharocheilodontic Syndrome 2	Conical tooth, Cleft lip, Cutaneous syndactyly, Tooth agenesis, Distichiasis, Flat face, Facial a...	OMIM:617681
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Conical tooth, Micrognathia, Supernumerary vertebrae, Conductive hear...	OMIM:263750
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Respiratory distress, Tapered finger, Microcephaly, Sensorineural hearing im...	ORPHA:544503
Peters Plus Syndrome	Micromelia, Micrognathia, Short neck, Clitoral hypoplasia, Widely spaced teeth, Clinodactyly of t...	ORPHA:709
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Encephalomal...	ORPHA:354
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Short metatarsal, Protruding ear, Cone-shaped epiphyses of the proxi...	OMIM:190350
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Porencephalic cyst, Anteriorly placed anus, Glossoptosi...	OMIM:117650
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Relative macrocephaly, Nevus flammeus, Dental crowding, Abnormal external genitalia, Upper limb a...	ORPHA:231140
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Short femur, Denta...	OMIM:300990
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Proximal placement of thumb, Long nose, Partial agenesis of the corpus callosum, Synophrys, High ...	OMIM:620113
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hepatomegaly, Hypospadias, Camptodactyly of finger, Microcephaly, Cryptorchidis...	ORPHA:1194
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Kyphosis...	ORPHA:40
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Epicanthus, Proximal placement of thumb, Abnormal thumb morphology, Deep philt...	ORPHA:1825
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Small scrotum, Short philtrum, Short tibia, Micropenis, Rhizomelia, Hypospa...	OMIM:607143
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Microcephaly, Cleft lip, Pierre-Robin sequence, Flared nostrils, Cleft ...	OMIM:619504
Coffin-Siris Syndrome 11	Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Bulbous nose, Sm...	OMIM:618779
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Microcephaly, Sensorineural hearing impairment, Hip dysplasia, Hypoplasia of...	OMIM:618379
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Intellectual Disability-Strabismus Syndrome	Micrognathia, Prominent nose, Short neck, Synophrys, High palate, Gastroesophageal reflux, Microp...	ORPHA:363528
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Absent gallbladder, Hypospadias, Choanal atresia, Posteriorly rotated e...	OMIM:300712
Stevenson-Carey Syndrome	Anteverted nares, Posteriorly rotated ears, Central hypoventilation, Underdeveloped nasal alae, N...	OMIM:611961
Icf Syndrome	Depressed nasal bridge, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ear...	ORPHA:2268
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Stillbirth, Camptodactyly, ...	OMIM:619751
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Sparse hair, Hypoplasia of t...	OMIM:257850
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypo...	ORPHA:2166
Cat Eye Syndrome	Preauricular pit, Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Micrognat...	OMIM:115470
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Highly arched eyebrow, Carious teeth, Talon cusp, Dental ma...	OMIM:613684
Zimmermann-Laband Syndrome 2	Thick eyebrow, Coarse facial features, Underdeveloped nasal alae, Bifid nasal tip, Short neck, De...	OMIM:616455
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Neonatal epiphyseal stippling, Coarse hair, High palate, Scaling skin...	ORPHA:35173
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Squamous cell carcinoma, Growth delay, Nail dystrophy, Nail dysplasia	OMIM:226600
Sotos Syndrome	Mandibular prognathia, Narrow face, High, narrow palate, Partial agenesis of the corpus callosum,...	OMIM:117550
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Wide nasal bridge, Epiphyseal stippling, Low-set ears, Flat face	OMIM:614859
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Microcephaly, Hyperlordosis, Kyphosis, Macroglossia, Abnormal cerebral white ma...	OMIM:606612
Dihydropyrimidinase Deficiency	Abnormal cerebral white matter morphology, Short phalanx of finger, Talipes equinovarus, Anal atr...	OMIM:222748
Branchiootorenal Syndrome 1	Branchial cyst, Narrow face, Congenital hip dislocation, High palate, Conductive hearing impairme...	OMIM:113650
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci...	ORPHA:97360
Distal Deletion 13Q	Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Microcephaly, Anencephaly, Abnormal for...	ORPHA:1590
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the...	ORPHA:175
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Depressed nasal bridge, Micr...	OMIM:108721
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Low anterior hairline, Downturned corners of mouth, High palate, Triphalangeal thumb, Clinodactyl...	OMIM:220500
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Wide nose, Tapered finger, Kyphosis, Large hands, Oligodontia, Everted lower lip vermilion, Scoli...	ORPHA:276630
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Prominent nasal bridge, Micrognathia, Abnormal eyelash mor...	ORPHA:1745
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Microcephaly, Oral-pharyngeal dysphagia, De...	OMIM:610883
Coffin-Siris Syndrome 5	Thin upper lip vermilion, Wide nose, Sparse scalp hair, Arachnodactyly, Sandal gap, Depressed nas...	OMIM:616938
Hypomelanosis Of Ito	Syndactyly, Alopecia, Coarse facial features, Microcephaly, Macular hypopigmented whorls, streaks...	OMIM:300337
2Q37 Microdeletion Syndrome	Short neck, Downturned corners of mouth, Short palm, Clinodactyly of the 5th finger, Conductive h...	ORPHA:1001
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Focal dermal aplasia/hypoplas...	OMIM:164180
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Prematur...	OMIM:268400
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, High palate, Bilateral coxa valga, Bifid uvula, Long face, Scapular w...	OMIM:615582
Acro-Renal-Mandibular Syndrome	Narrow face, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, Short philtrum, High palat...	ORPHA:958
Frontorhiny	Low-set, posteriorly rotated ears, Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of fi...	ORPHA:391474
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Short neck, Rectal atresia, Low ant...	OMIM:617666
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Thick hair, Highly arched eyebrow, Broad nasal tip, Tapered finger, Cervic...	ORPHA:401923
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Cavum septum pellu...	OMIM:247200
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Posteriorly rotated ears, Cleft upper lip, Microcephaly, Cryptorchidism, Postax...	OMIM:264480
Coffin-Siris Syndrome 6	Coarse facial features, Depressed nasal bridge, Posteriorly rotated ears, Kyphoscoliosis, Microgn...	OMIM:617808
Charge Syndrome	Bifid scrotum, Narrow face, Anophthalmia, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of...	ORPHA:138
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Abnormal palmar dermatoglyphics, Microcephaly, Cryptorchidism, Neonatal asphyxia, ...	ORPHA:2728
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic vertebra...	ORPHA:268249
Chromosome Xp11.23-P11.22 Duplication Syndrome	Medial flaring of the eyebrow, Thick eyebrow, Posteriorly rotated ears, Prominent nasal bridge, U...	OMIM:300801
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Seckel Syndrome 7	Microcephaly, Prominent nose, Abnormal carpal morphology, Madelung deformity, Hypoplasia of the u...	OMIM:614851
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congenital hip dislocation, Arachnodactyly, Dental crowding, Protrus...	OMIM:225400
Fountain Syndrome	Synophrys, Subcutaneous nodule, Abnormal form of the vertebral bodies, Spina bifida occulta, Papu...	ORPHA:3219
Achondroplasia	Respiratory distress, Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Choanal s...	OMIM:100800
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat...	OMIM:300717
Dyskeratosis Congenita, Digenic	Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D...	OMIM:620040
Fanconi Anemia, Complementation Group R	Microcephaly, Absent thumb, Agenesis of permanent teeth, Scoliosis, Nevus, Microphthalmia, Anal a...	OMIM:617244
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Depressed nasal bridge, Proximal placement of thumb, Short ...	ORPHA:90650
Lowe-Kohn-Cohen Syndrome	Preauricular skin tag, Sensorineural hearing impairment, Anorectal anomaly, Anal atresia	ORPHA:2408
Tarp Syndrome	Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, poste...	ORPHA:2886
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, High, narrow palate, Cortical dysplasia, Calcaneovalgus deformity, High p...	OMIM:612513
Alopecia Antibody Deficiency	Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ...	ORPHA:1006
Alkuraya-Kucinskas Syndrome	Small scrotum, Micrognathia, Webbed neck, Hypoplasia of the brainstem, High palate, Micropenis, D...	OMIM:617822
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Protruding ear, High palate, Micr...	OMIM:300534
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Micrognathia, Hypoplasia of the pons, Abnormally large globe, Simplified gyral pattern, Hypoplasi...	OMIM:300749
Cleidocranial Dysplasia 1	Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, ...	OMIM:119600
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital...	OMIM:132400
Chromosome 8Q21.11 Deletion Syndrome	Micrognathia, Short neck, Protruding ear, Downturned corners of mouth, High palate, Short philtru...	OMIM:614230
Roifman Syndrome	Single transverse palmar crease, Downturned corners of mouth, Irregular vertebral endplates, Clin...	OMIM:616651
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Hypogonadism, High palate, Narrow mouth, Microphthalmia, Retrognathia	ORPHA:2528
Atelis Syndrome 2	Sacral dimple, Single transverse palmar crease, Micrognathia, Diastema, Microcephaly, Prominent n...	OMIM:620185
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Distal Triplication 15Q	Arachnodactyly, Abnormal external genitalia, Micrognathia, Kyphosis, Sensorineural hearing impair...	ORPHA:314588
Rothmund-Thomson Syndrome Type 2	Long nose, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Sparse hair, Short pha...	ORPHA:221016
Trichorhinophalangeal Syndrome Type 2	Redundant skin, Deep philtrum, Protruding ear, Conductive hearing impairment, Thick nasal alae, B...	ORPHA:502
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Microcephaly, Cryptorchidism, Non-midline cleft lip, Postaxial hand po...	ORPHA:2075
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Thick nasal alae, Posteriorly rotate...	ORPHA:163961
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Abnormal pinna morphology, Highly arched eyebrow, Short neck, Pachygyri...	OMIM:614583
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Meier-Gorlin Syndrome 2	Clitoral hypertrophy, Abnormal pinna morphology, Micrognathia, Microcephaly, Narrow mouth, Underd...	OMIM:613800
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Anorectal anomaly, Short philtrum, Abnormality of the uterus, Gastroeso...	ORPHA:567
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Focal Dermal Hypoplasia	Congenital hip dislocation, Cleft ala nasi, Brittle hair, Anophthalmia, Osteopathia striata, Shor...	OMIM:305600
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Synophrys, Abnormal...	ORPHA:505652
Nijmegen Breakage Syndrome	Anal stenosis, Sinusitis, Sandal gap, Choanal atresia, Cleft upper lip, Micrognathia, Malar promi...	OMIM:251260
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Convex nasal ridge, Posteriorly rotated ears, M...	OMIM:241410
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Anteriorly placed an...	ORPHA:247262
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Unilateral polymicrogyria, Limited elbow movement, Microcephaly, Prominent nasal ...	ORPHA:319171
17P11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Abnormal dental morphology, Micrognathia, Open bite, Microceph...	ORPHA:1713
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide nose, Microcephaly, Prominent nose, Broad nasal tip, Bulbous nose,...	OMIM:617982
Seckel Syndrome 2	Few cafe-au-lait spots, Hypospadias, Microcephaly, Micrognathia, Prominent nose, Clinodactyly of ...	OMIM:606744
Heart And Brain Malformation Syndrome	Attached earlobe, Cerebellar vermis hypoplasia, Anteverted nares, Camptodactyly of finger, Depres...	OMIM:616920
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Microcephaly, Cryptorchidism, Wide nasal bridge,...	OMIM:619595
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Reduced forced expiratory volu...	OMIM:108145
Recombinant 8 Syndrome	Small scrotum, Redundant skin, Micrognathia, Downturned corners of mouth, Clinodactyly of the 5th...	ORPHA:96167
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Micrognathia, Bilateral cryptorchidism, ...	ORPHA:2754
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Abnorma...	ORPHA:949
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, Anteverted nares, Micr...	OMIM:614105
Camptodactyly Syndrome, Guadalajara Type 3	Numerous nevi, Thick eyebrow, Abnormal pinna morphology, Facial asymmetry, Broad nasal tip, Short...	ORPHA:488434
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Fac...	ORPHA:438216
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Toriello-Carey Syndrome	Micrognathia, Short neck, Partial agenesis of the corpus callosum, Clinodactyly, Anteriorly place...	ORPHA:3338
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Posteri...	OMIM:618430
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Micromelia, Micrognath...	ORPHA:2189
Spinal Muscular Atrophy, Type I	Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood	OMIM:253300
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis,...	OMIM:271510
Nijmegen Breakage Syndrome	Abnormal hair quantity, Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Microcepha...	ORPHA:647
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle...	ORPHA:261236
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo...	OMIM:615207
Three M Syndrome 3	Prominent nasal tip, Anteverted nares, Microcephaly, Short neck, Increased vertebral height, Hype...	OMIM:614205
Legius Syndrome	Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Low posterior hairline, ...	OMIM:611431
Zechi-Ceide Syndrome	Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, ...	OMIM:612916
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Synophrys, Wide penis, Abnormality of the ear, Downturned corners of mouth...	ORPHA:3455
Bohring-Opitz Syndrome	Micrognathia, Low anterior hairline, Hypoplasia of the brainstem, Gastroesophageal reflux, Agenes...	OMIM:605039
Cleft Palate-Large Ears-Small Head Syndrome	Hypospadias, Micrognathia, Microcephaly, Gingival overgrowth, Cleft palate, Ulnar deviation of fi...	ORPHA:2013
Xeroderma Pigmentosum, Variant Type	Growth delay, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	OMIM:278750
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Huriez Syndrome	Squamous cell carcinoma of the skin, Nail dystrophy, Small nail	OMIM:181600
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Naevus flammeus of the eyelid, Downturned corners of mouth, Advanced eruption of t...	ORPHA:2215
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Unilateral radial aplasia, Synophrys, Aplasia of the 1st metacarpa...	ORPHA:476126
Ataxia-Telangiectasia	Recurrent respiratory infections, Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circul...	ORPHA:100
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Downturned cor...	ORPHA:261494
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Abnormality of the dentition, Microcephaly, Short neck, Deep philtrum...	ORPHA:251038
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Micrognathia, Hepatic fibrosis, Cough, Sparse hair, Microdontia, Accessory spleen, Depressed nasa...	OMIM:620005
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Narrow face, Coxa valga, Long fingers, Ging...	OMIM:614753
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha...	OMIM:177170
Raine Syndrome	Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, Short neck, Protruding e...	OMIM:259775
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Abnormality of th...	OMIM:276950
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Micrognathia, Short neck, Downturned corners of mouth, High palate, Short ph...	ORPHA:284160
Sialuria	Thin upper lip vermilion, Coarse facial features, Hepatomegaly, Splenomegaly, Synophrys, Hirsutis...	OMIM:269921
Parenti-Mignot Neurodevelopmental Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Synophrys, Cupped ear, Microtia, ...	OMIM:619873
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Kyphosis, Synophrys, Hypertrichosis, Cleft palate, Protruding ear, Short p...	ORPHA:85317
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Depressed nasal bridge, Microcephaly, Short neck, Kyphosis, Hip dislocation, Hepato...	OMIM:608776
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Orbital cyst, Coloboma	OMIM:251505
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Clinodactyly of the 5th f...	ORPHA:2750
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide...	OMIM:601224
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Thin vermilion border, Low-set ears, Alopecia of ...	ORPHA:1532
Lowry-Maclean Syndrome	Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Bi...	ORPHA:2409
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Silver-Russell Syndrome	Dental crowding, Micrognathia, Downturned corners of mouth, Abnormal appendicular skeleton morpho...	ORPHA:813
Roifman Syndrome	Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Hippocampal atroph...	ORPHA:353298
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge, Leukoencepha...	OMIM:614052
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Congenital hip dislocation, Redundant skin, Narrow nasal ridge, Microce...	OMIM:612940
Pachyonychia Congenita	Respiratory distress, Natal tooth, Alopecia, Epidermoid cyst, Angular cheilitis, Palmoplantar bli...	ORPHA:2309
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count, Recurrent ...	OMIM:615468
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph...	ORPHA:2872
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Small sc...	OMIM:601803
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Follicular hype...	OMIM:616295
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosi...	ORPHA:1145
Schisis Association	Micromelia, Microcephaly, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cleft ...	ORPHA:63862
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Macrocephaly, Malar flattening, Open mouth, Retrognathia, Short nose	OMIM:613670
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Micrognathia, High palate, Pachygyria, Agenesis of corpus callos...	OMIM:614866
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Arachnodactyly, Dental crowding, Narrow mouth, Cerebral atrophy, Protruding ear, Atrophic scars, ...	OMIM:615539
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Squamous cell carcinoma, Nail dy...	OMIM:148210
Mulibrey Nanism	Hepatomegaly, Wide nose, Triangular face, Dental crowding, Single transverse palmar crease, Depre...	OMIM:253250
Adult Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental morphology, Prominent nasal bridge, ...	ORPHA:978
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Agenesis of cerebellar vermis, Postaxial polydactyly, K...	OMIM:614815
Adnp Syndrome	Respiratory distress, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger...	ORPHA:404448
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Ring Chromosome 6 Syndrome	Microcephaly, Short neck, Wide nasal bridge, Respiratory insufficiency, Low posterior hairline, M...	ORPHA:1448
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Congenital giant melanocytic nevus, Anteverted nares, Round face, N...	OMIM:137550
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:604292
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Promin...	ORPHA:3409
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec...	OMIM:615952
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin	OMIM:617571
Genitopatellar Syndrome	Congenital hip dislocation, Small scrotum, Micrognathia, Prominent nose, Anteriorly placed anus, ...	OMIM:606170
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Thin upper lip vermilion, Hypoplasia of the ulna, Cerebellar vermis hypopl...	OMIM:619135
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Skin tags, Palmar pits, Plantar pits, Hemivertebrae, Vertebral fusion, Odo...	OMIM:109400
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Triceps weakness, Weakness of long fi...	ORPHA:98913
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Round face, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Limited...	OMIM:617809
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Short neck, Aplasia/Hypoplasia of the g...	ORPHA:264450
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Tented upper lip vermilion, Prominent nose, Low anterior hairline, Simplified gyral pattern, High...	OMIM:619244
Rauch-Steindl Syndrome	Attached earlobe, Hepatomegaly, Sacral dimple, Depressed nasal bridge, Miscarriage, Highly arched...	OMIM:619695
Epilepsy, Progressive Myoclonic, 9	Short thumb, Simplified gyral pattern, Scoliosis, Microglossia, Agenesis of corpus callosum	OMIM:616540
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Small scrotum, Redundant skin, Micrognathia,...	OMIM:612289
Noonan Syndrome 13	Micrognathia, Short neck, High palate, Widely spaced teeth, Gastroesophageal reflux, Microdontia,...	OMIM:619087
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing imp...	ORPHA:3236
Orofaciodigital Syndrome I	Dry hair, Porencephalic cyst, Lobulated tongue, High palate, Hepatic fibrosis, Sparse hair, Agene...	OMIM:311200
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetraphocomelia, Hypo...	OMIM:215140
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Wide nose, B...	OMIM:600430
Kinsship Syndrome	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Synophrys, Down...	OMIM:619297
Cranioectodermal Dysplasia 4	Anteverted nares, Recurrent pneumonia, Decreased nasal nitric oxide, Cutis laxa, Protruding ear, ...	OMIM:614378
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long face, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Depressed nasal bridge, Poster...	OMIM:618590
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Hypospadias, Abnormal cortical gyration, Abnormal pinna morphology, Flat face,...	OMIM:177980
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai...	ORPHA:1307
Periventricular Nodular Heterotopia	Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux, Thin skin, Scoliosis	ORPHA:98892
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, C...	ORPHA:496689
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Lacrimal duct apl...	DECIPHER:46
Intellectual Developmental Disorder, Autosomal Recessive 43	Thin upper lip vermilion, Highly arched eyebrow, Broad nasal tip, Microcephaly, Dorsal hirsutism,...	OMIM:615817
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy	OMIM:619692
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Coarse facial features, Bilateral single transverse palma...	ORPHA:50810
Aspartylglucosaminuria	Mandibular prognathia, Anterior beaking of lumbar vertebrae, Chronic otitis media, Abnormal facia...	ORPHA:93
Nizon-Isidor Syndrome	Thin upper lip vermilion, Hypospadias, Anteverted nares, Depressed nasal bridge, Prominent nasal ...	OMIM:618872
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Micrognathia, Short neck, Microvesicular hepatic steatosis, Downturned corners of mouth, High pal...	OMIM:300868
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Cutaneous synd...	ORPHA:2890
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Rocker bottom foot, Camptodactyly o...	ORPHA:251056
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Short neck, Deep philtrum, Hypoplasia of the iris, Microdontia, Agenesis of cor...	OMIM:619194
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Heyn-Sproul-Jackson Syndrome	Sparse hair, Intrauterine growth retardation, Severe short stature	OMIM:618724
Congenital Disorder Of Glycosylation, Type Ik	Death in infancy, Hepatomegaly, Microcephaly, Micrognathia, Splenomegaly, Cerebral atrophy, Thin ...	OMIM:608540
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,...	OMIM:616007
Alg1-Cdg	Abnormality of the gastrointestinal tract, Kyphosis, Cerebral atrophy, Respiratory failure, Prote...	ORPHA:79327
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Curly hair, Rhizomelia, Depressed nasal bridge, Reduced cerebral white ...	OMIM:616638
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas...	ORPHA:1788
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Synophrys, White hair, Premature graying of ha...	ORPHA:894
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Cerebral atrophy, Respiratory insufficiency, Respiratory failure, High palate, Hypo...	OMIM:615330
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Senso...	OMIM:109120
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Intestinal obstruction, Hypoplasia of penis, Depressed nasal b...	ORPHA:2323
Autosomal Dominant Omodysplasia	Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Micrognath...	ORPHA:93328
Nance-Horan Syndrome	Narrow face, Prominent nasal bridge, Prominent nose, Diastema, Macrotia, Mulberry molar, Broad fi...	OMIM:302350
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Absent or minimally ossified vertebral bodies, Sho...	ORPHA:93271
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Cerebral calcification, Metaphyseal sclerosis, Leukoencephalopathy, Gen...	OMIM:612199
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Cleft palate, F...	OMIM:616462
Kbg Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Short neck, Epispadias, Synophrys, L...	OMIM:148050
Trisomy 8Q	Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Sh...	ORPHA:1752
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Narrow face, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla,...	OMIM:300676
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Broad skull, Short philtrum, Micropenis, Long toe, Absen...	ORPHA:163979
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Antecubital pterygium, Anky...	OMIM:619339
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sparse ey...	OMIM:606164
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Orofacial cleft, Symphalangism affecting the ph...	ORPHA:2990
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Senso...	OMIM:194350
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinoda...	OMIM:274000
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Asplenia, Hemivertebrae, Finger clinod...	ORPHA:99776
Adams-Oliver Syndrome 2	Alopecia, Depressed nasal bridge, Single transverse palmar crease, Micrognathia, Microcephaly, Bu...	OMIM:614219
Doors Syndrome	Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, ...	ORPHA:79500
Lipoid Proteinosis	Cerebral calcification, Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the ging...	ORPHA:530
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Alopecia totalis, Aplasia/Hypoplasia of the ...	ORPHA:1234
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Prominent nose, High palate, H...	ORPHA:763
Neurodevelopmental Disorder With Spasticity And Poor Growth	Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Reduced cerebral w...	OMIM:618076
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Craniofaciofrontodigital Syndrome	Respiratory distress, Gastrointestinal dysmotility, Low anterior hairline, Gastroesophageal reflu...	ORPHA:363705
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Prominent nose, Coxa vara, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Mi...	ORPHA:2637
Stickler Syndrome, Type I	Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Kyphosis, Irregular femor...	OMIM:108300
Temple Syndrome	Relative macrocephaly, Decreased testicular size, Wide nose, Anteverted nares, Depressed nasal br...	OMIM:616222
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Camptodactyly of finger, Rocker bottom foot, Microcephaly, Micrognathia, Prominent...	OMIM:610756
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Micrognathia, Malabsorption, Microcephaly, Cryptorchidism, Ery...	ORPHA:99812
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, M...	OMIM:300863
Developmental And Epileptic Encephalopathy 63	Thin upper lip vermilion, Overlapping toe, Highly arched eyebrow, Bulbous nose, Cleft palate, Lon...	OMIM:617976
Vacterl With Hydrocephalus	Absence of the sacrum, Microtia, third degree, Anophthalmia, Micrognathia, Esophageal atresia, Cr...	ORPHA:3412
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phoco...	ORPHA:3404
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Numerous nevi, Depressed nasal bridge, Penile freckling, Preaxial hand poly...	ORPHA:210548
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Abnormal dental morphology, Abnormal dental enamel morphology, Aplastic clavicle,...	ORPHA:85199
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concentration, Ja...	OMIM:614876
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Single transverse palmar crease, Sensorineural hearing impairment, Depressed nasal ...	OMIM:266510
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Kyphoscoliosis, Hypoplasia of the odontoid process, Bulbous nose, Wide nas...	OMIM:612913
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Wide nose, Anteverted nares, Wide mouth, Microtia, Widely spaced tee...	OMIM:619056
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Respiratory insufficiency due to muscle weakness...	ORPHA:2590
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Hearing impairment, A...	ORPHA:90153
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Conductive hearing impairment, Agl...	OMIM:202650
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Respiratory ...	OMIM:611722
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Prominent nose, Short neck, Synophrys, High palate, Short philtrum, Bipariet...	ORPHA:85293
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Short neck, Cortical thickening of long bone diaphyses, Subcortical cerebr...	ORPHA:309282
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy, Type E brachydactyly	ORPHA:1962
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:304120
Anus, Imperforate	Ectopic anus, Hypospadias, Anal atresia, Hearing impairment	OMIM:301800
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Laryngot...	OMIM:618454
Schaaf-Yang Syndrome	Mandibular prognathia, Gastroesophageal reflux, Micropenis, Tapered finger, Cryptorchidism, Low-s...	OMIM:615547
Kagami-Ogata Syndrome	Pursed lips, Respiratory failure requiring assisted ventilation, Anteverted nares, Depressed nasa...	ORPHA:254519
Chromosome 17Q12 Duplication Syndrome	Triangular face, Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Broad thumb...	OMIM:614526
Temtamy Syndrome	Long face, Dental crowding, Highly arched eyebrow, Micrognathia, Lop ear, Hip dislocation, Thick ...	OMIM:218340
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom...	OMIM:301041
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent herpes, Recurrent...	ORPHA:125
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, High palate, Gastroesophageal...	OMIM:616975
Xeroderma Pigmentosum	Macule, Craniofacial hyperostosis, Decreased testicular size, Alopecia, Hypermelanotic macule, Fl...	ORPHA:910
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Relative macrocephaly, Thin upper lip vermilion, Prominent fingertip pads, Fine hair, Downturned ...	ORPHA:231137
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Hypergonadotropic hypogonadism, Abnormal hand morphology, Small hand, Premature grayin...	OMIM:300845
Trisomy 9P	Brachydactyly, Sacral dimple, Dental crowding, Microcephaly, Abnormal nasal morphology, Short nec...	ORPHA:236
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Glossoptosis, Hypoplasia of the brainstem, High palate, Gastroesophageal reflux, An...	OMIM:254940
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Sparse hair, C...	OMIM:181270
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Low anterior hairline, Oligodontia, Sparse ...	OMIM:272950
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Short stature	OMIM:619985
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Round face, Aplasia/Hypoplasia of the skin, Narrow nasal ridge, Micrognathia, Pancr...	ORPHA:280365
Eem Syndrome	Finger syndactyly, Absent eyebrow, Sparse scalp hair, Abnormal dental morphology, Selective tooth...	ORPHA:1897
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent...	ORPHA:2180
Baker-Gordon Syndrome	Thin upper lip vermilion, Gastroesophageal reflux, Scoliosis, Prominent nasal tip, Short nose, Sm...	OMIM:618218
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coron...	OMIM:118651
Arthrogryposis, Distal, Type 2B3	Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Scoliosis, Narrow mouth, Overlap...	OMIM:618436
Necrobiosis Lipoidica	Squamous cell carcinoma	ORPHA:542592
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Narrow face, Single transverse palmar crease, Symphalangism affecti...	OMIM:186500
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Hereditary Folate Malabsorption	Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,...	ORPHA:90045
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Tracheobronchomalacia, Hypoplasia of the brainstem, Abnormal facial shape, Abnormal periventricul...	ORPHA:500159
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal...	ORPHA:93307
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
9Q33.3Q34.11 Microdeletion Syndrome	Small scrotum, Single transverse palmar crease, Short neck, Patellar hypoplasia, Bilateral coxa v...	ORPHA:495818
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Synophrys, Low anterior hairline, Downturned corners of mouth, Widely spaced tee...	OMIM:301044
Noonan Syndrome 14	Short neck, High, narrow palate, Sparse hair, Long philtrum, Scapular winging, Sparse eyebrow, Cr...	OMIM:619745
Proboscis Lateralis	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Anophthalmia, Abnormal location o...	ORPHA:141099
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Low anterior hairline, Coxa vara, Metaphyseal cupping of metaca...	OMIM:300232
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Growth delay, Nail dystrophy, Anonychia, Sparse body hair	ORPHA:79402
Geroderma Osteodysplastica	Mandibular prognathia, Beaking of vertebral bodies, Redundant skin, Hip dislocation, Abnormal for...	ORPHA:2078
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Single transverse palmar crease, 3-5 toe syndactyly, Clinodactyly of the 5th finger, Spina bifida...	OMIM:300707
17Q24.2 Microdeletion Syndrome	Thin upper lip vermilion, Thick eyebrow, Otosclerosis, Triangular face, Abnormality of the wrist,...	ORPHA:529962
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Anteverted nares, Frontal balding, Microcephaly, Thick lowe...	ORPHA:1942
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Decreased proportion of marginal zone B cells, Au...	OMIM:619375
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Short neck, High, narrow palate, Synophrys, Ab...	ORPHA:488632
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Long face, Branchial fistula, Ar...	ORPHA:261330
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Round face, Aplasia/Hypoplasia of the skin, Splenomegaly, Pancreatitis, Polycystic ...	ORPHA:2348
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ...	ORPHA:2083
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye...	OMIM:167730
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Abnormal metacarpal m...	ORPHA:166100
Distal Deletion 3P	Preauricular pit, Low-set, posteriorly rotated ears, Sacral dimple, Anteverted nares, Micrognathi...	ORPHA:1620
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Short neck, Downturned corners of mouth, Short philtrum, Hig...	OMIM:616364
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal intervertebral disk morphology, Hy...	ORPHA:2311
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Bulbous nose, Low anterior hairline, Spotty hypopigmentation, Depressed nasal t...	ORPHA:79133
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Congenital hip dislocation, Redundant skin, Coarse hair, High palate, Sparse...	ORPHA:357074
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Micrognathia, Short neck, Calcaneovalgus deformity, Gastroesophageal reflux, Pursed lips, Neonata...	OMIM:616266
20Q13.33 Microdeletion Syndrome	Hallux valgus, Low-set, posteriorly rotated ears, Sacral dimple, Triangular face, Hypospadias, De...	ORPHA:261311
Thakker-Donnai Syndrome	Anteverted nares, Posteriorly rotated ears, Short neck, Bulbous nose, Hemivertebrae, Tracheoesoph...	ORPHA:1780
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	External genital hypoplasia, Cleft palate, Secondary microcephaly, Clinodactyly of the 5th finger...	ORPHA:231147
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent...	OMIM:605309
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia...	OMIM:301043
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Decreased circulating total IgG, Follicular hyperplasia, S...	OMIM:619381
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Cerebral calcification, Short neck, Metaphyseal widening, Synophrys, Low an...	OMIM:617303
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Asymmetric crying face, Micrognathia, Microcephaly, Cryptorchidism, Cleft palate, Protruding ear,...	ORPHA:1166
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Redundant skin, External genital hypoplasia, High, narrow palate, Epispadi...	ORPHA:2658
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Pos...	OMIM:174300
Paganini-Miozzo Syndrome	Mandibular prognathia, Posteriorly rotated ears, Downturned corners of mouth, Thin vermilion bord...	OMIM:301025
Toluene Embryopathy	Micrognathia, Tapered finger, Microcephaly, Cryptorchidism, Protruding ear, Thin vermilion border...	ORPHA:1920
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Microcephaly, Broad nasal tip, ...	OMIM:614207
Coffin-Siris Syndrome 8	Thin upper lip vermilion, Sparse scalp hair, Anteverted nares, Cryptorchidism, Thick lower lip ve...	OMIM:618362
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Round face, Depressed nasal bridge, Short neck, Cryptorchidism, Clinodactyly, Bulbous nose, Wide ...	OMIM:616789
Baralle-Macken Syndrome	Striae distensae, Microcephaly, Tapered finger, High, narrow palate, Kyphosis, Hirsutism, Cafe-au...	OMIM:619255
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Tapered f...	ORPHA:251071
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Short neck, Synophrys...	ORPHA:199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Micrognathia, Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Dandy-Walker ...	OMIM:236670
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Micrognathia, Respiratory insufficienc...	ORPHA:1143
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, External genital hypoplasia, Micrognathia, Hemiver...	OMIM:214800
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level	OMIM:614102
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Anophthalmia, Micrognathia, Epispadias, Abnormality of the ear, Abnormal fa...	ORPHA:2556
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra...	OMIM:314390
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, High pala...	ORPHA:3103
Alazami Syndrome	Wide nose, Sparse eyebrow, Mild microcephaly, Wide mouth, Slender long bone, Thick vermilion bord...	ORPHA:319671
Pontocerebellar Hypoplasia, Type 10	Reduced cerebral white matter volume, Short neck, Synophrys, Simplified gyral pattern, High palat...	OMIM:615803
Peters-Plus Syndrome	Hypoplasia of the vagina, Short lingual frenulum, Single transverse palmar crease, Limited elbow ...	OMIM:261540
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Epicanthus, Polydactyly, Microphthalmia, Downslanted palpebral fissures, Smooth philtrum	OMIM:602501
Prune Belly Syndrome	Congenital hip dislocation, Intestinal malrotation, Cryptorchidism, Urogenital sinus anomaly, Ver...	ORPHA:2970
Intellectual Developmental Disorder, Autosomal Dominant 58	Few cafe-au-lait spots, Dental crowding, Single transverse palmar crease, Posteriorly rotated ear...	OMIM:618106
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Limited elbow extension and supination, Brachydactyly, Intestinal malro...	ORPHA:401935
Sialuria	Neuropathic spinal arthropathy, Thin upper lip vermilion, Coarse facial features, Hepatomegaly, E...	ORPHA:3166
Ullrich Congenital Muscular Dystrophy 1	Round face, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Hip disl...	OMIM:254090
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Thin upper lip vermilion, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hyp...	ORPHA:1295
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp...	OMIM:201000
Osteogenesis Imperfecta, Type X	Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Death in child...	OMIM:613848
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Micrognathia, High, narrow palate, Downturned corners of mouth, Gastroesophageal...	ORPHA:96182
Zaki Syndrome	Cerebellar vermis hypoplasia, Micrognathia, High palate, Short philtrum, Anteverted nares, Sparse...	OMIM:619648
Orofaciodigital Syndrome Xviii	Brachydactyly, Square face, Sandal gap, Single transverse palmar crease, Accessory oral frenulum,...	OMIM:617927
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Lip pit, Tapered finger, Microcephaly, Supernumer...	ORPHA:1236
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Anophthalmia, Cutaneous finger ...	OMIM:219000
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Epicanthus, Rhizomelia, Abnormal dental enamel morphology, Abno...	ORPHA:1515
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Tonne-Kalscheuer Syndrome	Decreased testicular size, Narrow face, Hypospadias, Prominent nasal bridge, Convex nasal ridge, ...	OMIM:300978
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar vermis hypoplasia, Short neck, Oral-pharyngeal dysphagia, High, narrow palate, Synophr...	OMIM:300966
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia, Recurrent infections	ORPHA:251009
Intermediate Nemaline Myopathy	High, narrow palate, Respiratory failure, Low-set ears, Dysphagia, Long philtrum	ORPHA:171433
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Thickened helices, Underdeveloped nasal alae, Bulbous nose, Wide nasal ...	OMIM:619493
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Micrognathia, Deep philtrum, Coarse hair, High palate, Clinodactyly of the 5th finger, ...	ORPHA:1974
Trichohepatoenteric Syndrome 1	Villous atrophy, Brittle hair, Depressed nasal ridge, Hepatic fibrosis, Sparse hair, Bifid uvula,...	OMIM:222470
Diaphanospondylodysostosis	Respiratory distress, Short neck, Missing ribs, Cleft palate, Narrow pelvis bone, Absent or minim...	ORPHA:66637
Juvenile Hyaline Fibromatosis	Abnormality of the gastrointestinal tract, Death in infancy, Aplasia/Hypoplasia of the skin, Abno...	ORPHA:2028
Microphthalmia, Lenz Type	Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Low-set, posterior...	ORPHA:568
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Micrognathia...	OMIM:258860
Shashi-Pena Syndrome	Reduced cerebral white matter volume, Synophrys, Long face, Short metacarpal, Highly arched eyebr...	OMIM:617190
Cerebrooculonasal Syndrome	Cerebellar vermis hypoplasia, Anophthalmia, Downturned corners of mouth, High palate, Conductive ...	OMIM:605627
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Highly arched eyebrow, Thick lower lip vermilion, Hip dislocation, Dee...	OMIM:619451
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Single transverse palmar crease, Synophrys, Low anterior hairline, Protruding ear, Downturned cor...	ORPHA:329224
Neu-Laxova Syndrome	Cerebral calcification, External genital hypoplasia, Micromelia, Micrognathia, Depressed nasal ri...	ORPHA:2671
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Impaired T cell function, Pure r...	OMIM:613179
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Macroglos...	ORPHA:254864
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Wide nose, Alopecia, Fair hair, Extern...	ORPHA:79330
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Sandal gap, External gen...	ORPHA:79322
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Bazex-Dupre-Christol Syndrome	Coarse hair, Basal cell carcinoma, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Large face, Hypoplasia of penis, Anophthalmia, Sparse eyelashe...	ORPHA:66625
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Intellectual Developmental Disorder With Neuropsychiatric Features	Depressed nasal bridge, Highly arched eyebrow, Thin vermilion border, Triangular face, Smooth phi...	OMIM:617532
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long face, Thin upper lip vermilion, Congenital hip dislocation, Supernumerary nipple, Facial asy...	ORPHA:457279
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Bulbous nose, Tongue nodules, Postaxia...	OMIM:258850
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Protruding ear, Oligodontia, High palate, Short philtrum, Micropenis, Long philtrum...	OMIM:309590
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Asplenia, Upper airway obstruction, High palate, Hypodontia, ...	OMIM:612776
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cryptorchidism, Thick lower lip vermilion,...	OMIM:613804
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Micrognathia, Microcephaly, Short nose, Cerebral atrophy, Dy...	OMIM:617802
17Q23.1Q23.2 Microdeletion Syndrome	Patellar hypoplasia, Protruding ear, Widely spaced teeth, Gastroesophageal reflux, Clinodactyly o...	ORPHA:261279
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ...	OMIM:277170
Ctcf-Related Neurodevelopmental Disorder	Single transverse palmar crease, Synophrys, Short philtrum, Joint contracture of the 5th finger, ...	ORPHA:363611
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Growth delay, Long eyelashes	ORPHA:3363
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Relative macrocephaly, Lumbar hyperlordosis, Rhizomelia, Posteriorly rotat...	OMIM:612813
Rubinstein-Taybi Syndrome 1	Facial hypertrichosis, Respiratory distress, Dental crowding, Single transverse palmar crease, Pr...	OMIM:180849
Weyers Ulnar Ray/Oligodactyly Syndrome	Narrow face, Proximal placement of thumb, Cleft upper lip, Absent thumb, Micrognathia, Hypoplasia...	OMIM:602418
Schinzel-Giedion Syndrome	Respiratory distress, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing, Anteri...	ORPHA:798
Baraitser-Winter Cerebrofrontofacial Syndrome	Micrognathia, Prominent nose, Long nose, Short neck, Subcortical cerebral atrophy, Pachygyria, Lo...	ORPHA:2995
Cdags Syndrome	Sparse scalp hair, Hypospadias, Sparse eyelashes, Rectourethral fistula, Sparse eyebrow, Sensorin...	OMIM:603116
Distal Duplication 17Q	Micrognathia, Protruding ear, High palate, Short philtrum, Low-set, posteriorly rotated ears, Acc...	ORPHA:3379
Chromosome 1P35 Deletion Syndrome	Long face, Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Microcephaly, Crypto...	OMIM:617930
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Low-set, posteriorly rotated ears, Thick eyebrow, Small scrotum, Coarse facial features, Abnormal...	ORPHA:1970
Esophageal Atresia	Respiratory distress, Gastrointestinal dysmotility, Anorectal anomaly, Abnormality of the ear, La...	ORPHA:1199
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Webbed neck, Pachygyria, Agenesis of corpus ca...	ORPHA:2308
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Overlapping toe, Anteverted nares, Depressed nasal bridge, Microcephaly, Apnea, ...	OMIM:617301
Lateral Meningocele Syndrome	Narrow face, Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the...	ORPHA:2789
Intellectual Developmental Disorder, Autosomal Dominant 64	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Depressed nasal brid...	OMIM:619188
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly	OMIM:610023
Kapur-Toriello Syndrome	Hypoplasia of penis, Posteriorly rotated ears, Intestinal malrotation, Short neck, Pachygyria, Dy...	ORPHA:2328
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Tented upper lip vermilion, Single transverse palmar crease, Reduced cerebral white matter volume...	OMIM:620075
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Bilateral cryptorchidism, Anteverted ears, Downturne...	OMIM:616268
Craniosynostosis, Philadelphia Type	Long palpebral fissure, Finger syndactyly	ORPHA:1527
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia, Gastroesophageal reflux, Periventricular white matter hyperintensities, Postnatal macro...	OMIM:618158
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Bifid scrotum, Hypospadias, Micrognathia, Cryptorchidism, Asth...	ORPHA:397590
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Posteriorly rotated ears, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upp...	OMIM:607597
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Single transverse palmar crease, Micrognathia, Deep philtrum, Short philtrum, Micropenis, Preauri...	OMIM:619951
Mosaic Variegated Aneuploidy Syndrome 2	Long face, Rhizomelia, Single transverse palmar crease, Epidermoid cyst, Micrognathia, Microcepha...	OMIM:614114
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating...	ORPHA:83313
Orofaciodigital Syndrome Viii	Syndactyly, Telecanthus, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Coarse facial features,...	OMIM:615222
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Short stature, Myelodysplasia, Sparse eyebrow, Squamous cell ...	ORPHA:2909
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Choanal ste...	OMIM:620183
Spondylo-Ocular Syndrome	Preauricular pit, Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Aplasia/H...	ORPHA:85194
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Abnormal dental enamel morphology, Microcephaly, Sparse eyebrow, Thin vermilion...	ORPHA:139474
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovarian...	ORPHA:95699
Trisomy 17P	Hypoplasia of penis, Micrognathia, Prominent nose, Short neck, Orofacial cleft, High palate, Clin...	ORPHA:261290
Encephalopathy Due To Sulfite Oxidase Deficiency	Microcephaly, Thick vermilion border, Long philtrum, Short nose, Abnormal pattern of respiration	ORPHA:833
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali...	ORPHA:2031
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Cerebral calcification, Hydranencephaly, Tracheo...	ORPHA:1393
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Short neck, Abnormality of the spleen, Deep philtrum, Synophry...	ORPHA:2162
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Slender nose, Triangular face, Arachnodactyly, D...	ORPHA:397695
Down Syndrome	Short palm, Redundant neck skin, Aganglionic megacolon, Single transverse palmar crease, Sandal g...	OMIM:190685
Witteveen-Kolk Syndrome	Narrow face, Glue ear, Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Cortic...	OMIM:613406
15Q14 Microdeletion Syndrome	Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Kyphosis, Cleft palate, Short...	ORPHA:261190
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Sparse eyelashes, Unilateral cryptorchidism, Micrognathia, Cleft palate, Microtia, Atresia of the...	OMIM:300946
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch...	OMIM:605282
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d...	OMIM:277590
Monosomy 5P	Finger syndactyly, Epicanthus, Small hand, High palate, Downslanted palpebral fissures	ORPHA:281
Ulnar-Mammary Syndrome	Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormal...	ORPHA:3138
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency, Tongue fasciculations, Abnormal corpus striatum ...	ORPHA:238329
2Q23.1 Microduplication Syndrome	Thin upper lip vermilion, Dental crowding, Broad hallux, Sandal gap, Abnormality of the dentition...	ORPHA:313947
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Bardet-Biedl Syndrome 16	Respiratory distress, External genital hypoplasia, Hypogonadism, Polydactyly, Recurrent otitis me...	OMIM:615993
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Microcephaly, Bulbous nose, Cupped ear, Wide nasa...	ORPHA:93946
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Thin upper lip vermilion, Elbow hypertrichosis, Depressed nasal bridge, Prominent nose, Carious t...	OMIM:620191
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Dysp...	ORPHA:254875
Ritscher-Schinzel Syndrome 2	Relative macrocephaly, Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protrud...	OMIM:300963
Dubowitz Syndrome	Single transverse palmar crease, Micrognathia, Protruding ear, Hypoplasia of the iris, High palat...	OMIM:223370
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Coarse facial features, Depressed nasal bridge, Prominent nasal bridge, Ky...	ORPHA:324410
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Acrofrontofacionasal Dysostosis	Bifid scrotum, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, ...	ORPHA:1784
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Neonatal respiratory distress, Dental crowding, Anteverted nares, Depressed nasal b...	OMIM:619005
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Sparse scalp hair, Depressed nasal bridge, Optic nerve h...	OMIM:620029
Coffin-Siris Syndrome	Clinodactyly, Low anterior hairline, Simplified gyral pattern, Aspiration pneumonia, Hepatoblasto...	ORPHA:1465
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space...	OMIM:616737
Megalocornea-Intellectual Disability Syndrome	Tapered finger, Micrognathia, Microcephaly, Sensorineural hearing impairment, Kyphosis, Wide nasa...	ORPHA:2479
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Sensorineural...	OMIM:618500
Atypical Werner Syndrome	Narrow face, Micrognathia, Abnormal hair whorl, Finger clinodactyly, Premature graying of hair, S...	ORPHA:79474
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Eosinophilia, Recurrent staphylococcal infect...	OMIM:615816
Lambotte Syndrome	Microcephaly, Macrotia, Atresia of the external auditory canal, Narrow mouth, Preaxial foot polyd...	OMIM:245552
Flynn-Aird Syndrome	Alopecia, Kyphoscoliosis, Carious teeth, Hyperkeratosis, Dermal atrophy, Progressive sensorineura...	OMIM:136300
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Epicanthus, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the uppe...	ORPHA:88630
Costello Syndrome	Redundant skin, Short neck, Gastroesophageal reflux, Low-set, posteriorly rotated ears, Large fac...	ORPHA:3071
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl...	OMIM:619522
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Coarse facial features, Broad hallux, Underdevelo...	ORPHA:276432
8Q24.3 Microdeletion Syndrome	Branchial cyst, Skin tags, Thoracic scoliosis, Congenital hip dislocation, Respiratory distress, ...	ORPHA:508488
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Narrow face, Dental crowding, Micrognathia, Hypoplasia o...	OMIM:309520
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Wide nose, Prominent nasal bridge, Supernumerary nipple, M...	ORPHA:3255
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Preauricular pit, Mixed hearing impairment, Abnormality of the...	OMIM:609166
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Respiratory distress, Hypoplasia of penis, Aplasia/Hypoplasia ...	ORPHA:990
X-Linked Intellectual Disability, Stocco Dos Santos Type	Depressed nasal bridge, Kyphosis, Congenital bilateral hip dislocation, Talipes equinovarus, Hirs...	ORPHA:85288
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Precocious puberty, Pyloric st...	ORPHA:96184
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Chops Syndrome	High, narrow palate, Synophrys, Downturned corners of mouth, Coarse hair, Gastroesophageal reflux...	OMIM:616368
Stromme Syndrome	Accessory spleen, Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic ne...	OMIM:243605
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Depressed ...	ORPHA:1837
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Micrognathia, Protruding ear, Coarse hair, Widely spaced teeth, Clinodactyly of th...	ORPHA:1071
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Lumbar scoliosis, Finge...	OMIM:601492
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Abnormality of the dentition, Pr...	ORPHA:627
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Depressed nasal bridge, Elevated circulating aspartate aminot...	OMIM:170100
5Q14.3 Microdeletion Syndrome	Thick eyebrow, Agenesis of cerebellar vermis, Toe syndactyly, Optic nerve hypoplasia, Anteverted ...	ORPHA:228384
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Abnormality of the liver, ...	ORPHA:1606
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Degcags Syndrome	Micrognathia, Prominent nose, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premat...	OMIM:619488
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin...	OMIM:619750
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Prominent nasal bridge, Precocious puberty, Short toe, Sensorineural hearing impairment, Asthma, ...	OMIM:619269
Congenital Short Bowel Syndrome	Sparse hair, Short stature	ORPHA:2301
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Diffuse cerebral atrophy, Parakeratosis, Single transverse palmar crease, M...	ORPHA:83617
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Recurrent pn...	ORPHA:47
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar...	OMIM:122470
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Protruding tongue, Microcephaly, Bulbous nose, 2-3 toe syndactyly, Azoo...	ORPHA:1446
Fibrochondrogenesis	Round face, Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depresse...	ORPHA:2021
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Adult Syndrome	Premature loss of permanent teeth, Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, S...	OMIM:103285
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fingernails, Bilateral single tra...	ORPHA:3253
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Abnormal facial shape, Microcephaly	OMIM:616335
Gomez-Lopez-Hernandez Syndrome	Alopecia, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Anteverted nares, Posterio...	OMIM:601853
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Preauricular pit, Low-set, posteriorly rotated ears,...	ORPHA:457193
Joubert Syndrome 21	Anophthalmia, Apnea, Dyspnea, Sensorineural hearing impairment, Splenomegaly, Single naris, Hypop...	OMIM:615636
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Microcephaly, Cryptorchidism, Gastrointestinal dysmotility, ...	OMIM:617798
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal s...	ORPHA:2363
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu...	ORPHA:2167
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Micrognathia, 2-3 toe cutaneous syndactyly, Protruding ear, Downturned corners of mout...	OMIM:614756
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Sparse eyelashes, Microcephaly, Bifid nasal tip, Sparse ey...	OMIM:618874
Treacher Collins Syndrome 1	Sparse lower eyelashes, Cleft soft palate, Choanal atresia, Micrognathia, Preauricular skin tag, ...	OMIM:154500
15q26 overgrowth syndrome	Mandibular prognathia, Micrognathia, Prominent nose, Short neck, Abnormal finger morphology, High...	DECIPHER:81
Lissencephaly, X-Linked, 2	Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Micropenis, Hi...	OMIM:300215
Koolen-De Vries Syndrome	Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pads, Long face, Vertebral...	OMIM:610443
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis	OMIM:168400
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Narrow face, Dental crowding, Synophrys, Short philtrum, High palate, Thic...	ORPHA:3063
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Thick eyebrow, Coarse facial features, Depressed nasal bridge, Highly arched eyebrow, Short nose,...	OMIM:617865
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal...	OMIM:604173
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Prominent nose, Short neck,...	OMIM:612474
1Q44 Microdeletion Syndrome	Exaggerated cupid's bow, Intestinal malrotation, Optic disc hypoplasia, Micrognathia, Microcephal...	ORPHA:238769
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Choanal atresia, Cleft palate, Cutis laxa, Rectovaginal fistula, Low-set ...	OMIM:270420
Alg9-Cdg	Villous atrophy, Micrognathia, Short neck, Large fleshy ears, Narrow greater sciatic notch, Gastr...	ORPHA:79328
Cree Mental Retardation Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate...	OMIM:606851
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Long face, Thin upper lip vermilion, Brachydactyly, Dental crowding, High anterior hairline, Prom...	OMIM:618879
Zimmermann-Laband Syndrome	Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, High palate, Bifid uvula, ...	ORPHA:3473
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Preauricular pit, Wide nose, Choanal atresia, Microcephaly, Esophageal atresia, Submucous cleft h...	OMIM:619227
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Long nose, Flat face, Duplication of the distal phalanx of the hallu...	OMIM:180750
Kosaki Overgrowth Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Thoracolumbar scoliosis, Wide nasal bridge, Xan...	OMIM:616592
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Coarse facial features, Sinusitis, Ovoid vertebral bodies, Short neck, Kyph...	ORPHA:583
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Glossoptosis, Clinodactyly of the 5th finger, Sparse hair, Alo...	ORPHA:2108
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow ...	ORPHA:373
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the ...	ORPHA:818
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb amyotrophy, Talipes equino...	OMIM:617087
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Anteverted nares, Aplastic c...	ORPHA:50945
Cowden Syndrome 5	Colonic diverticula, Skin tags, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive ma...	OMIM:615108
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Triangular face, Arachnodactyly, Hearing impairment, Kyphoscoliosis, Wide dist...	OMIM:614856
Rothmund-Thomson Syndrome Type 1	Short stature, Alopecia totalis, Myelodysplasia, Squamous cell carcinoma, Growth delay, Sparse or...	ORPHA:221008
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Anteverted nares, Supernumerary nipple, Micrognathia, Widow's peak, Submucous c...	OMIM:619122
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,...	ORPHA:96121
Coxoauricular Syndrome	Microtia, Hip dislocation, Hearing impairment	OMIM:122780
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Mesomelic/rhizomelic limb shor...	ORPHA:2632
Multiple Sulfatase Deficiency	Hepatomegaly, Coarse facial features, Anteverted nares, Broad hallux, Splenomegaly, Cerebral atro...	OMIM:272200
Mucolipidosis Type Ii	Dry hair, White hair, Abnormal long bone morphology, Otitis media, Conductive hearing impairment,...	ORPHA:576
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Retractile testis, Microtia, Clinod...	ORPHA:163976
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, De...	ORPHA:1572
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Otodental Syndrome	Lens coloboma, Periodontitis, Otitis media with effusion, Abnormal dental pulp morphology, Long f...	ORPHA:2791
Diamond-Blackfan Anemia 10	Respiratory distress, Posteriorly rotated ears, Choanal atresia, Micrognathia, Cleft palate, Micr...	OMIM:613309
Omphalocele Syndrome, Shprintzen-Goldberg Type	Thin upper lip vermilion, Neonatal respiratory distress, Abnormal eyelash morphology, Downturned ...	ORPHA:3164
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Respiratory ...	OMIM:225753
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Brittle hair, Prominent nasal bridge, Carious teeth, Hypopl...	ORPHA:50814
Desmosterolosis	Relative macrocephaly, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Posteriorly rotate...	OMIM:602398
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy, Recurrent infections	OMIM:251240
Caudal Regression Syndrome	Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, O...	ORPHA:3027
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair	OMIM:618535
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Telecanthus, Preaxial hand polydactyly, ...	ORPHA:380
Cowden Syndrome 6	Colonic diverticula, Skin tags, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive ma...	OMIM:615109
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Depressed ...	OMIM:258315
Teebi Hypertelorism Syndrome 1	Preauricular pit, Natal tooth, Thin upper lip vermilion, Hypopigmented macule, Dental crowding, A...	OMIM:145420
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Hypoplasia of the pons, Deep philtrum, High palate, Aplasia/Hypoplasia of the ce...	ORPHA:397709
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forear...	OMIM:600383
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Gastroesophageal re...	OMIM:134780
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Micrognathia, Cortical dysplasia, Hypoplasia of the brainstem, Short philtrum, L...	OMIM:618343
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti...	ORPHA:540
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Hearing impairment, Abnormality of the dentit...	OMIM:182290
Faundes-Banka Syndrome	Thin upper lip vermilion, Sparse scalp hair, Premature thelarche, Micrognathia, Underdeveloped na...	OMIM:619376
2P15P16.1 Microdeletion Syndrome	Protruding ear, High palate, Bilateral single transverse palmar creases, Tapered finger, Sparse e...	ORPHA:261349
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Diamond-Blackfan Anemia	Micrognathia, Short neck, Low anterior hairline, High palate, Pallor, Triphalangeal thumb, Adenoc...	ORPHA:124
Orofaciodigital Syndrome Type 3	Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit...	ORPHA:2752
Mgat2-Cdg	Low-set, posteriorly rotated ears, Respiratory distress, Dental crowding, Posteriorly rotated ear...	ORPHA:79329
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Ambiguous genitalia, Anteve...	ORPHA:280200
Ogden Syndrome	Redundant neck skin, Congenital hip dislocation, Redundant skin, Apnea, Micrognathia, Short neck,...	OMIM:300855
Kleefstra Syndrome 2	Microcephaly, Kyphosis, Everted lower lip vermilion, Scoliosis, Abnormal facial shape, Bifid uvul...	OMIM:617768
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Jaberi-Elahi Syndrome	Brittle hair, Depressed nasal bridge, Sparse eyelashes, Microcephaly, Sparse eyebrow, Kyphosis, G...	OMIM:617988
Zttk Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, High palat...	OMIM:617140
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Postaxial polydactyly	OMIM:613094
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Say-Barber-Miller Syndrome	Micrognathia, Patellar hypoplasia, Protruding ear, High palate, Abnormal facial shape, Ulnar devi...	ORPHA:3132
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Subcutaneous nodule, Anteriorly placed anus, Abnormality of t...	ORPHA:857
Gand Syndrome	Long toe, Thin upper lip vermilion, Broad nasal tip, Long fingers, Wide nasal bridge, Wide mouth,...	OMIM:615074
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Recurrent infections, Decreased circulating antibody level, Dec...	ORPHA:90363
Fanconi Anemia, Complementation Group D1	Short thumb, Cafe-au-lait spot, Anal atresia, Microcephaly	OMIM:605724
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Flat capital femoral epiphysis, Sensorineural hearing impairment, Genu valg...	OMIM:614134
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Deep philtrum, Fine hair, Large hands, Ta...	ORPHA:3447
Transaldolase Deficiency	Hepatomegaly, Depressed nasal bridge, Short neck, Splenomegaly, Deep philtrum, Synophrys, Asthma,...	OMIM:606003
Deeah Syndrome	Short neck, High palate, Short philtrum, Death in childhood, Micropenis, Death in infancy, Neonat...	OMIM:619004
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sepsis, Hepatitis, Recurrent infections, Agammaglobulinemia, Ne...	ORPHA:33110
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Depressed nasal bridge, Br...	OMIM:232400
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Micrognathia, Hypodysplasia of the corpus callosum, Short neck, Micropenis, Agenes...	OMIM:257300
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Sacral dimple, Hypospadias, Miscarriage, Short...	ORPHA:2438
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Kyphoscoliosis, Reduced cerebral white matter volume, Microcephaly, Hypopla...	OMIM:617977
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Cryptorchidism, Kyphosis, High palate, Short philtrum, Low-set ears,...	OMIM:615433
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:619503
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, D...	OMIM:615398
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hypospadias, Malar prominence, Microcephaly, Micrognathia, Short neck...	ORPHA:2522
Fetal Encasement Syndrome	Upper limb undergrowth, Lower limb undergrowth, Thin skin	OMIM:613630
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thicken...	ORPHA:3152
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Endocrine-Cerebroosteodysplasia	Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, T...	OMIM:612651
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Anteverted nares, Spontaneous pneumothorax, Synophrys, Hydrocele testis, Protein-losing enteropat...	OMIM:618154
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Long face, Tented upper lip vermilion, Accessory oral frenulum, Conical to...	OMIM:619143
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
W Syndrome	Hypoplasia of the ulna, Broad uvula, Radial bowing, Depressed nasal bridge, Broad nasal tip, Elbo...	ORPHA:2804
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Short hallux, Broad nasal tip, Long fingers, Wide nasal bridge, Clinoda...	OMIM:620393
Lissencephaly 6 With Microcephaly	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Tapered finger, Micr...	OMIM:616212
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, 2-4 finger syndact...	OMIM:107480
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted...	OMIM:211530
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Periventricular cysts, Orofacial cleft, Abnormal f...	OMIM:194190
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Alopecia, Malabsorption, Tapered finger, Splenomegaly, Hypoge...	ORPHA:2930
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Dental crowding, Micrognathia, Cryptorchidism, Senso...	OMIM:615381
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of...	ORPHA:2850
20P13 Microdeletion Syndrome	Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Telecanthus, Highly arch...	ORPHA:313781
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Preauricular pit, Mixed hearing impairment, Abnormal pinna mor...	ORPHA:50815
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Cerebellar vermis hypoplasia, Thick eyebrow, Abnorm...	ORPHA:1394
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short thumb, Kyphosis, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th ...	OMIM:618453
Mucopolysaccharidosis Type 4	Bowing of the long bones, Coarse facial features, Anteverted nares, Abnormal dental enamel morpho...	ORPHA:582
Ramos-Arroyo Syndrome	Respiratory distress, Sparse scalp hair, Aganglionic megacolon, Shoulder dimple, Anteverted nares...	ORPHA:1051
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi...	ORPHA:376
Dyskeratosis Congenita	Cerebral calcification, Hypoplasia of the maxilla, White hair, Anorectal anomaly, Premature grayi...	ORPHA:1775
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Epicanthus, Telecanthus, Abnormal eyelash morphology, Non-midline cleft lip, C...	ORPHA:1252
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Gastrointestinal dysmotility, Hemivertebrae, Simplified gyral pattern,...	ORPHA:500150
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose, Long philtrum	OMIM:125700
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:309583
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Postnatal growth retardation, Squam...	ORPHA:477
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Depressed nasal bridge, Rhizomelia, Microcephaly, Hemivertebrae, Anteriorly pla...	OMIM:617661
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Synophrys, Aplasia/Hypoplasia of the gallbladder, ...	ORPHA:96092
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Incr...	OMIM:305620
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Bloom Syndrome	Postnatal growth retardation, Lymphoma, Squamous cell carcinoma, Growth delay, Intrauterine growt...	OMIM:210900
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal...	ORPHA:444077
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Thin skin, Microcephaly	OMIM:259410
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Hearing impairment, Microcephaly, Anosmia, Epiphyseal stippling, Abnormal...	OMIM:302950
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Cho...	ORPHA:83
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Thin upper lip vermilion, Hepatomegaly, Long philtrum, Progressive microcep...	OMIM:614741
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Protruding ear,...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Protruding ear,...	ORPHA:453504
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Round face, Tented upper lip vermilion, Anteverted nares, Single transvers...	OMIM:300912
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Depressed nasal bridge, Delayed epiphyseal ossification, Macroglossia, Moon...	ORPHA:226313
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Malar prominence, Micrognathia, Kyphosis,...	ORPHA:48431
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Cryptorchidism, Abnormal tongue morphology, Gastrointestinal dysmotility, Aplas...	ORPHA:531151
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Bulbous nose, Subcortical ban...	OMIM:618737
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Joubert Syndrome 14	Tented upper lip vermilion, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxia...	OMIM:614424
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Coarse facial features...	ORPHA:1318
Pgm3-Cdg	Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Triangular face, Prominent nasal bridge...	ORPHA:1110
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Elevated fecal osm...	ORPHA:92050
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Cortical dysplasia, Synophrys, Tracheoesophageal fistula, Clef...	ORPHA:261272
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Lacrimal duct atresia, Cleft palate, Split foot, Hypodonti...	OMIM:603543
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion...	ORPHA:1858
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Lathosterolosis	Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Cerebral calcification, ...	ORPHA:46059
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Finger clinodactyly, Short philtru...	ORPHA:2896
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Premature thelarche, Protruding ear, Hypoplasia of the brainstem, Widely spaced teeth, Gastroesop...	ORPHA:268261
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Micrognathia, Short middle phalanx of the 2nd finger, Esophageal...	ORPHA:391641
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Redundant neck skin, Exaggerated cupid's bow, Single transverse palmar crease, Overlapp...	ORPHA:254528
Peho Syndrome	Tented upper lip vermilion, Tapered finger, Short nose, Retrognathia, Hypoplasia of the corpus ca...	OMIM:260565
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Dental crowding, Thorac...	ORPHA:313892
Cowden Syndrome 1	Colonic diverticula, Skin tags, Acrokeratosis, Micrognathia, Hypoplasia of the maxilla, Kyphosis,...	OMIM:158350
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Downturned corners of mouth, Slender long bo...	ORPHA:1185
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level	ORPHA:1296
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Thick nasal alae, Conical tooth, Persistence of primary teeth, Scarring...	OMIM:618727
Schuurs-Hoeijmakers Syndrome	Thin upper lip vermilion, Highly arched eyebrow, Diastema, Cryptorchidism, Bulbous nose, Synophry...	OMIM:615009
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Short neck, Palma...	ORPHA:77301
Coffin-Siris Syndrome 7	Downturned corners of mouth, Short philtrum, Clinodactyly of the 5th finger, Microdontia, Thick n...	OMIM:618027
Fetal Valproate Spectrum Disorder	Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi...	ORPHA:1906
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Prominent nasal bridge, Microcephaly, Micrognathia, Cryptorchi...	ORPHA:1131
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Hip dysplasia, Tongue fasciculations, Narrow mouth, Progressive microcephaly	OMIM:620007
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Redundant neck skin, Micrognathia, Short neck, High palate, Protein-losing enteropathy, Micropeni...	OMIM:235255
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Abnormality...	ORPHA:521308
Lathosterolosis	Bilobate gallbladder, Micrognathia, High palate, Ambiguous genitalia, male, Conductive hearing im...	OMIM:607330
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Camptodactyly of finger, Thin skin	ORPHA:1658
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Subcutaneous nod...	ORPHA:1791
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Sensorineural hea...	ORPHA:1883
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Depressed nasal ridge, Orofacial cleft, High palate, Gastroesophageal reflux, Clinodac...	OMIM:607872
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Feingold Syndrome	Hallux valgus, Brachydactyly, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognat...	ORPHA:1305
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly r...	ORPHA:1908
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Microcephaly, Cryptorchidism, Bulbous nose, Sensorineural h...	ORPHA:250989
Mulchandani-Bhoj-Conlin Syndrome	Posteriorly rotated ears, Hypermelanotic macule, Hyperlordosis, 2-3 toe syndactyly, Cafe-au-lait ...	OMIM:617352
Fanconi Anemia, Complementation Group F	Sacral dimple, Pneumonia, Absent thumb, Microcephaly, Short thumb, Cryptorchidism, Hypoplasia of ...	OMIM:603467
Coffin-Siris Syndrome 4	Prominent interphalangeal joints, Short philtrum, Thick nasal alae, Agenesis of corpus callosum, ...	OMIM:614609
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Sensorineural hear...	OMIM:619737
Mend Syndrome	Micrognathia, High palate, Abnormal nasal bridge morphology, Dandy-Walker malformation, Broad hal...	ORPHA:401973
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Microcephaly, Kyphosis, Erythema, Hyperkeratosis, Scoliosis, D...	ORPHA:816
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Spa...	ORPHA:496641
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress...	ORPHA:93258
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Productive cough, Aspleni...	ORPHA:244
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Synophrys, ...	OMIM:300143
Feingold Syndrome 1	Micrognathia, Asplenia, High palate, Accessory spleen, Anteverted nares, Esophageal atresia, Shor...	OMIM:164280
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N...	ORPHA:79151
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Thin upper lip vermilion, Arachnodactyly, Sandal gap, Long nose, Wide nasal bridge, Respiratory i...	OMIM:617146
Pelger-Huet Anomaly	Depressed nasal bridge, Abnormality of the dentition, Kyphosis, Upper limb undergrowth, Gingival ...	OMIM:169400
Nasal Bones, Absence Of	Short columella, Narrow naris	OMIM:161480
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Okamoto Syndrome	Redundant neck skin, Tented upper lip vermilion, Abnormally large globe, Downturned corners of mo...	ORPHA:2729
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Death in infancy, Thoracic scoliosis, Narrow face, Respiratory distress, D...	OMIM:620278
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Microcep...	ORPHA:3078
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Micrognathia, Microcephaly, Cryptorchi...	ORPHA:3304
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Microc...	OMIM:152950
Microcephalic Primordial Dwarfism, Dauber Type	Microcephaly, Prominent nose, Abnormal carpal morphology, Madelung deformity, Bilateral breast hy...	ORPHA:319675
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Kyphoscoliosis, Microcephaly, Hip dislocation, Wide nasal bridge, Buphthalmos, High palate, Limb ...	OMIM:618005
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge...	ORPHA:2662
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Thin upper lip vermilion, Hypermobility of toe joints, Hyperextensibility of the finger joints, D...	ORPHA:488635
Porokeratosis Of Mibelli	Hyperkeratosis, Aplasia/Hypoplasia of the skin	ORPHA:735
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Thin upper lip vermilion, Coarse facial features, Highly arched eyebrow, Microcephaly, Cerebral a...	OMIM:616154
Xq12-Q13.3 Duplication Syndrome	Abnormal basal ganglia MRI signal intensity, Numerous nevi, Depressed nasal bridge, Microcephaly,...	ORPHA:314389
Anauxetic Dysplasia 3	Femoral bowing, Oligodontia, Gastroesophageal reflux, Trident hand, Short metacarpal, Depressed n...	OMIM:618853
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Nevus, Abnormal large intestine morphology, Mi...	ORPHA:109
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Coarse...	ORPHA:1896
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Optic nerve hypoplasia, Thick hair, Microg...	OMIM:618381
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Long eye...	ORPHA:1514
Microphthalmia, Syndromic 13	Kyphoscoliosis, Microcephaly, Anteverted ears, Microphthalmia, Widely-spaced incisors	OMIM:300915
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Preauricular pit, Bilateral single transverse palmar creases, Micrognathia, Microcephaly, High, n...	ORPHA:2516
Intellectual Developmental Disorder, Autosomal Recessive 65	Square face, Hypospadias, Prominent nasal bridge, Supernumerary nipple, Abnormal pinna morphology...	OMIM:618109
Ivic Syndrome	Aplastic clavicle, Hearing impairment, Preaxial hand polydactyly, Short thumb, Hypoplasia of the ...	ORPHA:2307
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Micrognathia, Short neck, Anorectal anoma...	ORPHA:233
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Short neck, Glandular hypospadias, Downtu...	OMIM:136140
Costello Syndrome	Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Micrognathi...	OMIM:218040
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias, Redundant skin, Depressed nasal bridge, Hypoplasia of the maxilla, Wi...	ORPHA:782
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Round face, Globus pallidus calcification, Bulbous nose, Wide nasal bri...	OMIM:620292
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Recurrent infections, Decreased circulating antibody level, Iron deficiency anemia,...	OMIM:226300
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Broad hallux, S...	OMIM:600987
Isotretinoin-Like Syndrome	Anteverted nares, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the inner ear, Cleft palate, ...	ORPHA:2306
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar...	ORPHA:293978
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Splenomegaly...	ORPHA:2746
Myopathic Ehlers-Danlos Syndrome	Shoulder flexion contracture, Kyphoscoliosis, Tapered finger, Micrognathia, High, narrow palate, ...	ORPHA:536516
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cerebellar vermis hypoplasia, Cleft ala nasi, Conical tooth, Bilateral...	OMIM:613451
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gastrointestinal dysmotility, Downturned corners of mouth, Oligodontia, Vertebral segmentation de...	ORPHA:453499
Intellectual Developmental Disorder, Autosomal Dominant 29	Dental crowding, Synophrys, Cutaneous finger syndactyly, High palate, Long face, Lumbar hyperlord...	OMIM:616078
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Developmental And Epileptic Encephalopathy 64	Thin upper lip vermilion, Thick eyebrow, Anteverted nares, Depressed nasal bridge, Highly arched ...	OMIM:618004
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Abnormal reproductive system morphology, Respiratory failure, Abnormal ...	ORPHA:70472
Desanto-Shinawi Syndrome	Thin upper lip vermilion, Thick eyebrow, Coarse facial features, Depressed nasal bridge, Posterio...	OMIM:616708
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Dihydropyrimidine Dehydrogenase Deficiency	Micromelia, Short neck, Deep philtrum, High palate, Anteverted nares, Depressed nasal bridge, Dee...	ORPHA:1675
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Long toe, Arachnodactyly, Decreased fibular diameter, Microcephaly, Lo...	OMIM:619489
Warty Dyskeratoma	Abnormality of the alveolar ridges, Acantholysis, Oral mucosa nodule, Abnormal hard palate morpho...	ORPHA:69745
Chromosome 18P Deletion Syndrome	Round face, Redundant neck skin, Toe syndactyly, Anteverted nares, Posteriorly rotated ears, Micr...	OMIM:146390
Microphthalmia, Syndromic 2	Narrow face, Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teet...	OMIM:300166
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing...	OMIM:604536
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Round face, Exaggerated cupid's bow, Optic nerve hypoplasia, Antever...	OMIM:615879
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Relative macrocephaly, Low-set, posteriorly rotated ears, Lumbar hyperlord...	ORPHA:171866
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph...	ORPHA:507
O'Donnell-Luria-Rodan Syndrome	Tapered finger, Cryptorchidism, Kyphosis, Abnormal cerebral white matter morphology, Prolonged ne...	OMIM:618512
Myhre Syndrome	Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ...	ORPHA:2588
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Macrocephaly, Platyspondyl...	OMIM:601356
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Liebenberg Syndrome	Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur...	OMIM:186550
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Short stature, Low posterior hairline	ORPHA:2183
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Microcephaly, Dysplastic corpus callosum, Recurrent pn...	OMIM:619179
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Increased circulating IgA level, Follicular hyperplasia, Recurr...	OMIM:615934
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola...	OMIM:309800
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Breast carcinoma, Short eyelashes, Spars...	OMIM:608615
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic p...	OMIM:614524
Woods Syndrome	Single transverse palmar crease, Supernumerary nipple, 3-4 finger cutaneous syndactyly, Wide nasa...	OMIM:615236
Congenital Multicore Myopathy With External Ophthalmoplegia	Narrow face, Tented upper lip vermilion, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respi...	ORPHA:98905
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Triangular face, Arachnodactyly, Prominent nasal bridge, Posteriorly rotat...	OMIM:617011
Chitayat Syndrome	Hallux valgus, Respiratory distress, Anteverted nares, Depressed nasal bridge, Short columella, T...	OMIM:617180
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia	OMIM:613435
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Thoracic kyphosis, Short pal...	ORPHA:508498
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair, Short stature	OMIM:618681
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Anteverted nares, Protru...	OMIM:617062
Barber-Say Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Anteverted nares, Redundant skin, Abno...	ORPHA:1231
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Microcephaly, Kyphosis, Sensorineural hearing impairment, Hip dislocation, ...	OMIM:616756
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormality of the liver	ORPHA:132
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Short neck, Deep philtrum, Finger joint hypermobility, Sparse hair, Long philtrum, Anteverted nar...	OMIM:613563
Anus, Imperforate	Anal atresia	OMIM:207500
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, C...	ORPHA:494344
Peho Syndrome	Anteverted nares, Tapered finger, Microcephaly, External ear malformation, Porencephalic cyst, Sh...	ORPHA:2836
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Clitoral hypertrophy, Toe syndactyly, Bulbous nose, Hypoplasia of the r...	ORPHA:140952
Cleft Velum	Short face, Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharynge...	ORPHA:99772
Hurler Syndrome	Short neck, Metaphyseal widening, Microdontia, Hepatomegaly, Hypoplasia of the femoral head, Ante...	OMIM:607014
Congenital Myopathy 10B, Mild Variant	Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory fail...	OMIM:620249
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Shoulder girdle muscle weakness, Spinal rigidity	OMIM:604801
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachydactyly, Triangular face, Coarse facial features, Microcephaly, Prominent nose, Wide nasal ...	ORPHA:1292
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Skin tags, Long face, Conical tooth, Micrognathia, Prominent nose, Supernumerary tooth, Underdeve...	ORPHA:90024
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Widened atrophic scar, Redundant skin, Equinus calcaneus, Micrognathia, Shoul...	ORPHA:536532
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, High palate,...	ORPHA:596
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Thoracic scoliosis, Dental crowding, Micrognathia, Spinal rigi...	OMIM:620351
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Oropharyngeal squamous cell carcinoma, Sparse eyelashes, Short...	OMIM:305000
Mucopolysaccharidosis, Type Vii	Short neck, Coarse hair, Narrow greater sciatic notch, Widely spaced teeth, Anterior beaking of l...	OMIM:253220
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Triangular mouth, Genu valgum, Cutaneous syndactyly, Clinodactyl...	ORPHA:166024
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Redundant neck skin, Hydranencephaly, Single transverse palmar crease, Antever...	OMIM:236500
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Round face, Depressed nasal bridge, Posteriorly rotated ears, Tapered f...	OMIM:619680
Mesomelic Dysplasia, Nievergelt Type	Large face, Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal syn...	ORPHA:2633
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormality of the humer...	ORPHA:1794
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Redundant skin, High, narrow palate, Abnormality of the gingiva, Subc...	ORPHA:286
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Thymic-Renal-Anal-Lung Dysplasia	Anal atresia	OMIM:274265
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Thin upper lip vermilion, Abnormal pinna morphology, Micrognathia, Microcephaly, B...	OMIM:614104
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Bilateral cryptorchidism, High palate, Gastroesophageal reflux, Pachygyria, Agenesi...	OMIM:613457
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Diastema, Conical tooth, Hypoplasia of the maxill...	OMIM:619142
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Respiratory distress, Scapular winging, Hypoventilation, Neonatal respirat...	ORPHA:98915
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit...	OMIM:612290
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Preauri...	OMIM:226980
Muenke Syndrome	Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Denta...	OMIM:602849
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi...	ORPHA:90117
Naxos Disease	Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Hepatomegaly, Neuronal loss in basal ganglia, Depressed n...	OMIM:604377
Pemphigus Vulgaris	Acantholysis, Abnormal oral cavity morphology	ORPHA:704
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Esophageal stenosis, Oral mucosal blisters, Congenital...	OMIM:619817
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Dental malocclusion, Wide nasal bridge, Overfolded helix, Gastroesophag...	OMIM:619149
Fanconi Anemia, Complementation Group P	Growth delay, Short stature, Squamous cell carcinoma	OMIM:613951
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Sparse hair, Microdontia, Syndactyl...	OMIM:614091
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, 2-3 toe syndactyly, Long palpebral fissure, Open mouth, 3-4 finger syndactyly	OMIM:600906
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormality of the dentition, M...	ORPHA:2065
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic ap...	ORPHA:98914
Congenital Myasthenic Syndrome	Microretrognathia, Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic ap...	ORPHA:590
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Long face, Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Sho...	OMIM:614800
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency	OMIM:618328
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Agenesis of cerebellar vermis, Small scrotum, Anteverted nares, Depressed nasal bridge,...	ORPHA:228390
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology	ORPHA:1389
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Schimke Immunoosseous Dysplasia	Short neck, Bilateral cryptorchidism, Coarse hair, Thoracic kyphosis, Lateral displacement of the...	OMIM:242900
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Hearing impairment, Broad n...	OMIM:617763
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Hypoplast...	OMIM:618918
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
14Q22Q23 Microdeletion Syndrome	Small scrotum, Anophthalmia, Micrognathia, Downturned corners of mouth, Short palm, Clinodactyly ...	ORPHA:264200
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Highly arched eyebrow, Cleft upper lip, Abnormal toe morphology,...	OMIM:216100
Jacobsen Syndrome	Micrognathia, Short neck, Clitoral hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Antev...	OMIM:147791
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Thin upper lip vermilion, Microcephaly, Sparse eyebrow, Wide mouth, Short ...	OMIM:619989
Treacher Collins Syndrome 2	Microretrognathia, Preauricular pit, Choanal atresia, Micrognathia, Cleft palate, Fusion of middl...	OMIM:613717
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Short neck, Thick lower lip vermilion, Dental maloc...	ORPHA:2563
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease...	OMIM:308050
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Thoracolumbar scoliosis, Talipes equinovarus, Anal atresia	OMIM:601389
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Gastroesophageal reflux, Thin skin, Scoliosis, Recurrent otitis media, Mac...	ORPHA:449291
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia	OMIM:300580
Kury-Isidor Syndrome	Finger syndactyly, Ptosis, Tented upper lip vermilion, Alopecia, Rocker bottom foot, Proximal pla...	OMIM:619762
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Microcephaly, Ky...	ORPHA:352447
Intellectual Developmental Disorder, Autosomal Dominant 57	Long face, Thin upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Microcepha...	OMIM:618050
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Absent gallbladder, Mi...	ORPHA:3186
Neuhauser Syndrome	Round face, Arachnodactyly, Depressed nasal bridge, Micrognathia, Microcephaly, Cupped ear, Low a...	OMIM:249310
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Purpura	ORPHA:743
Mosaic Trisomy 8	Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Clinodactyl...	ORPHA:96061
Aicardi Syndrome	Skin tags, Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the cor...	OMIM:304050
Summitt Syndrome	Finger syndactyly, Epicanthus, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of ...	ORPHA:3210
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulders, Microtia,...	OMIM:212112
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, High palate, Low-set ears, Clino...	OMIM:618480
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Low anterior hairline, Premature graying of hair, High pa...	ORPHA:769
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, M...	ORPHA:1508
Facial Clefting, Oblique, 1	Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia	OMIM:600251
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Abnormal pinna morph...	OMIM:184705
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Redundant neck skin, Micrognathia, Short neck, Abnormally large globe, High palate, Protein-losin...	ORPHA:1655
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, A...	ORPHA:935
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Single transverse palmar crease, Absent septum pellucidum, Mic...	OMIM:309801
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Rectal prolapse, Hypoplastic facial bones, Overtubulated...	OMIM:619793
Camptodactyly Syndrome, Guadalajara, Type Iii	Small hypothenar eminence, Abnormal pinna morphology, Nevus, Short neck, Absent phalangeal crease...	OMIM:611929
Pachyonychia Congenita 3	Plantar hyperkeratosis, Furrowed tongue, Palmoplantar keratoderma, Follicular hyperkeratosis, Pal...	OMIM:615726
Hamamy Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Sparse hair, Abnormal number of hair w...	OMIM:611174
Chime Syndrome	Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morp...	ORPHA:3474
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Anteverted nares, Micrognathia, Metaphyseal widening...	ORPHA:73230
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Microdontia...	OMIM:613610
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver...	ORPHA:2769
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Depressed nasal br...	OMIM:618019
Recurrent Respiratory Papillomatosis	Squamous cell carcinoma	ORPHA:60032
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Albinism, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th...	ORPHA:79434
Iniencephaly	Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Anencephaly, Orofacial cleft, Lis...	ORPHA:63259
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Coarse facial features, Short neck, Metatarsus addu...	ORPHA:584
Jansen-De Vries Syndrome	Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Hyperlordosis, Small hand, ...	OMIM:617450
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Deep philtrum, Short metatarsal, Low anterior hairline, Finger clinod...	OMIM:617137
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Absent eyelashes, Xerostomia, C...	OMIM:620193
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Basal ganglia calcification, Ivory epiphyses of the phalanges of...	OMIM:133540
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Depressed nasal bridge, Cutis laxa, ...	OMIM:612379
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ...	ORPHA:2521
Riddle Syndrome	Generalized lymphadenopathy, Recurrent viral infections, Recurrent pneumonia, Decreased circulati...	ORPHA:420741
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Scapular winging, Acute pancreatitis, Abnormal pinna...	ORPHA:26791
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Protruding tongue, Low a...	OMIM:618797
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Prominent nasal bridge, Bilateral cryptorchidism, Sensorineural hearing impa...	OMIM:618652
Intellectual Developmental Disorder, X-Linked 106	Thin upper lip vermilion, Hypospadias, Microcephaly, Cryptorchidism, Synophrys, Thick vermilion b...	OMIM:300997
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ...	ORPHA:276399
Cockayne Syndrome Type 2	Mandibular prognathia, Long face, Hepatomegaly, Anophthalmia, Hypermelanotic macule, Delayed erup...	ORPHA:90322
Distal Deletion 15Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Finger clinodactyly,...	ORPHA:1596
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Single transvers...	OMIM:269150
Spondylometaphyseal Dysplasia, Sedaghatian Type	Redundant skin, Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Narrow greater s...	OMIM:250220
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai...	ORPHA:2010
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Low anterior hairline, Protruding ear, High palate, Hippocampal atrophy,...	OMIM:619325
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa...	ORPHA:1200
Branchiootic Syndrome	Preauricular pit, Branchial fistula, Lip pit, Micrognathia, Facial asymmetry, Sensorineural heari...	ORPHA:52429
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Orofacial cleft, Atypical scarring of skin...	ORPHA:60030
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Thin upper lip vermilion, Hypospadias, Optic nerve hypoplasia, Depressed nasal bridge, ...	ORPHA:363686
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Hypospadias, Depressed nasal bridge, Posteriorly rotated ears, Microgna...	OMIM:603736
Mend Syndrome	Redundant neck skin, Micrognathia, High palate, Dandy-Walker malformation, Microretrognathia, Bro...	OMIM:300960
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Coarse facial features, Intestinal pseudo-obstruction, H...	OMIM:309900
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Bulbous nose, Small hand, Short foot, Thin vermilion border, Hypogonadism, Sparse...	OMIM:300869
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Anteverted nares, Sparse eyelashes, Microcephaly, Abnormality of hair texture, Part...	OMIM:234050
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Cerebral atrophy, Wide nasal ...	OMIM:618729
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Dental crowding, Micromelia, Proximal pla...	OMIM:270400
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Posteriorly rotated ears, Underdeveloped nasal alae, Wide nasal...	OMIM:613456
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridg...	OMIM:256520
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Choanal atresia, Short thumb, Cleft palate, Recurrent otitis media, At...	OMIM:612562
Ulerythema Ophryogenesis	Miscarriage, Dry skin, Facial erythema, Hyperkeratotic papule, Dermal atrophy, Follicular hyperke...	ORPHA:3406
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Posteriorly rotated ears, Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Mac...	OMIM:618392
Alg12-Cdg	Redundant skin, Proximal placement of thumb, Micrognathia, Short philtrum, Gastroesophageal reflu...	ORPHA:79324
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus, Scoliosis	OMIM:616155
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Duplication of thu...	OMIM:601707
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Squamous cell carcinoma, ...	ORPHA:33364
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Single transverse palmar crease, Hypoplasia of the pons, Long nose, Deep...	OMIM:618143
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Long eyebrows, Cleft upper lip...	OMIM:201180
Intellectual Developmental Disorder, X-Linked 108	Thin upper lip vermilion, Long philtrum, Clinodactyly of the 5th finger, High anterior hairline, ...	OMIM:301024
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu...	ORPHA:166002
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Abnormal facial shape, Aganglionic megacolon, Anal atresia	OMIM:235760
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Anteverte...	ORPHA:220497
2q37 monosomy	Thin upper lip vermilion, Round face, Brachydactyly	DECIPHER:44
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec...	OMIM:256500
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Respiratory insufficiency, Protru...	ORPHA:169186
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Respiratory failure, Thin corpus callosum, Hearing impairment	OMIM:616277
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Long face, Thin upper lip vermilion, Narrow face, Anteverted nares, Thickened helices, Abnormal p...	OMIM:617641
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Tongue atrophy, Sensorineural hearing impairment, Restrictive ventilatory defec...	OMIM:158900
Triploidy	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Hepatomegaly, Hypospad...	ORPHA:3376
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy, Type E brachydactyly	OMIM:133690
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Pontocerebellar Hypoplasia Type 1	Hypoplasia of the pons, Congenital laryngeal stridor, Thin corpus callosum, Respiratory failure, ...	ORPHA:2254
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormality of the hand, Abnormality of the de...	ORPHA:1657
Joubert Syndrome With Ocular Defect	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Anteverte...	ORPHA:220493
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Prolonged neonatal jaundice, Short philtrum, Secondary micro...	OMIM:618437
Silver-Russell Syndrome 1	Syndactyly, Hypospadias, Micrognathia, Craniofacial disproportion, Short distal phalanx of the 5t...	OMIM:180860
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Hip dysplasia, Scoliosis, Short nose, Long face	OMIM:617183
Aicardi Syndrome	Partial agenesis of the corpus callosum, Protruding ear, Short philtrum, Gastroesophageal reflux,...	ORPHA:50
Myopathy, Centronuclear, 2	Scapular winging, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, High...	OMIM:255200
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Anteverted nares, Anterior concavity of thoracic vertebrae, Microcephal...	OMIM:617101
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Hypospadias, Abnormality of the dentition, Kyphosis, Scoliosis, Abnormal testis m...	ORPHA:1548
Chromosome 3Q29 Duplication Syndrome	Round face, Microcephaly, Abnormally large globe, Bulbous nose, Wide nasal bridge, Low posterior ...	OMIM:611936
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Celiac disease, Absent cupid's...	ORPHA:284169
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Death in infancy, Carious teeth, Pyloric stenosis, Congenital localized absence of sk...	OMIM:226700
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism, Aplasia/Hypoplasia of the skin, Thin skin, Purpura	ORPHA:745
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Cleft pala...	ORPHA:1135
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Short Syndrome	Alopecia, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygomatic bon...	ORPHA:3163
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Gapo Syndrome	Hepatomegaly, Alopecia, Epidermoid cyst, Redundant skin, Anteverted nares, Micrognathia, Depresse...	OMIM:230740
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Respiratory in...	OMIM:187601
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Hepatomegaly, Tracheoesophageal fistula, Microtia, High palate, Talipes...	OMIM:277380
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Prominent nose, High, narrow palate, Widely spaced teeth, Short philtrum, Increa...	OMIM:300967
Oculocerebrocutaneous Syndrome	Skin tags, Finger syndactyly, Alopecia, Congenital hip dislocation, Aplasia/Hypoplasia of the ski...	ORPHA:1647
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Masa Syndrome	Microcephaly, Hyperlordosis, Kyphosis, Talipes equinovarus, Macrocephaly, Agenesis of corpus call...	OMIM:303350
Dermotrichic Syndrome	Depressed nasal bridge, Aganglionic megacolon, Nail dystrophy, Short nose, Macrotia, Abnormal ver...	ORPHA:99688
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Depressed nasal bridge, Camptodactyly of finger, Posteriorly rotated ears,...	ORPHA:994
Arthrogryposis Multiplex Congenita 5	Micrognathia, Short neck, Death in infancy, Neonatal respiratory distress, Anteverted nares, Wide...	OMIM:618947
Typical Nemaline Myopathy	Narrow face, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Hip dislocation,...	ORPHA:171436
Mosaic Variegated Aneuploidy Syndrome	Apnea, Micrognathia, Depressed nasal ridge, Aplasia/Hypoplasia of the cerebellum, Clinodactyly of...	ORPHA:1052
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Death in infancy, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bi...	OMIM:300219
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Posteriorly rotated ears, Tapered finger, Bulbous ...	OMIM:613870
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Thin upper lip vermilion, Finger syndactyly, Mandibular prognathia, Dental crowdi...	ORPHA:435938
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Abnormality of the dentition, Skin ulcer, Fine hair, Protruding ear, Hyperke...	ORPHA:1806
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Broad nasal tip, Short neck, Cleft lip, Kyphosis, Cupped ear, Low anterio...	OMIM:618223
Incontinentia Pigmenti	Abnormal hand morphology, Orofacial cleft, Spina bifida occulta, Finger syndactyly, Alopecia, Abn...	ORPHA:464
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Protruding ear, High palate, Ecchymosis, Abnormal facial shape, Long philtrum, Microretrognathia,...	OMIM:601776
Craniolenticulosutural Dysplasia	Brittle hair, Coarse hair, High palate, Gastroesophageal reflux, Sparse hair, Bifid uvula, Long p...	OMIM:607812
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Short neck, Downturned corners of mouth, High palate, Camptodactyly of toe, Conduct...	OMIM:265000
Osteogenesis Imperfecta, Type I	Otosclerosis, Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Thin skin, Finger joi...	OMIM:166200
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Protruding ear, Pachygyria, Agenesis of corpus callosum, Bifid...	ORPHA:899
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, High palate, Talipes equinovarus	OMIM:620011
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Abnormal dis...	ORPHA:2673
Hypertrichosis Cubiti	Round face, Rhizomelia, Prominent nasal bridge, Micromelia, Microcephaly, Abnormal eyelash morpho...	ORPHA:2220
Birk-Barel Syndrome	Microretrognathia, Sacral dimple, Tented upper lip vermilion, Single transverse palmar crease, Hi...	OMIM:612292
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Intestinal malrotation,...	OMIM:617866
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Cerebellar vermis hypoplasia, Uplifted earlobe, Cryptorchidism, Kyphosis, ...	ORPHA:364028
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Downturned corners of mouth, Clinodactyly of the 5th finger, Abnormal facial shape, Bilateral sin...	ORPHA:488642
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Intestinal malrotation, Abnorm...	ORPHA:1553
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ...	OMIM:245400
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Micrognathia, Wrist swelling, Wide nasal bridge, Downturned corners of m...	ORPHA:2774
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Conical tooth, Partial agenesis of the corpus callosum...	OMIM:135900
Fibrosis Of Extraocular Muscles, Congenital, 3C	Thin upper lip vermilion, Kyphosis, Highly arched eyebrow	OMIM:609384
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu...	OMIM:615966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in infancy, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the ...	OMIM:614643
Adams-Oliver Syndrome	Porencephalic cyst, Sparse hair, Finger syndactyly, Alopecia, Aplasia/Hypoplasia of the skin, Por...	ORPHA:974
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Familial Cervical Artery Dissection	Thin skin, Striae distensae	ORPHA:36382
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Chorioretinal coloboma, Microphthalmia, ...	OMIM:611638
Myasthenic Syndrome, Congenital, 10	Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity	OMIM:254300
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition...	OMIM:216300
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Prominent nasal bridge...	OMIM:616914
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc...	OMIM:618975
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Micr...	ORPHA:468631
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Microcephaly, Kyp...	OMIM:601701
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Hypospadias, Prominent nasal bridge, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, Sensorin...	OMIM:609944
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Prominent nasal bridge, Clinodactyly of the 5th toe, Microcephaly...	OMIM:614225
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Pancreatitis, Polycystic ovaries, Xan...	ORPHA:79083
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Senso...	ORPHA:79107
Lacrimoauriculodentodigital Syndrome 2	Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Cupped ear...	OMIM:620192
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal form of the vertebral bo...	ORPHA:828
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Microcephaly, Anteverted ears, Hirsutism, Cerebellar hypoplasi...	OMIM:618087
Waardenburg Syndrome Type 3	Telecanthus, Tented upper lip vermilion, Camptodactyly of finger, White hair, Abnormal finger mor...	ORPHA:896
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie...	OMIM:224300
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Round face, Coarse facial features, Depressed nasal bridge, Hy...	OMIM:618505
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Gastrointestinal dysmotility, Respiratory failure, Cerebral atrophy, Dysphagia	OMIM:618637
Osteogenesis Imperfecta, Type V	Hyperextensibility of the finger joints, Triangular face, Vertebral wedging, Abnormal pelvic gird...	OMIM:610967
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Small scrotum, Choana...	ORPHA:1300
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Small scrotum, Hypospadias, Microcephaly, Micrognathia, Crypto...	ORPHA:2505
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Ulnar-Mammary Syndrome	Deformed radius, Small scrotum, Aplasia of the 3rd metacarpal, Breast hypoplasia, Aplasia of the ...	OMIM:181450
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Cerebral atrophy, Respiratory failure, Aspiration pneumonia, Heari...	OMIM:619057
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hearing impairment, Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Atrophic scars, Calcaneovalgus deformity, Thin skin	OMIM:225320
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Sialidosis Type 1	Coarse facial features, Kyphosis, Sensorineural hearing impairment, Thick lower lip vermilion, Sp...	ORPHA:812
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Short philtrum, Gastroesophageal reflux, Hypoplasia of the corpus cal...	ORPHA:85277
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Micrognathia, Asplenia, Neonatal death, Neonatal respiratory distress, Hypospadias, Esophageal at...	OMIM:265380
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Dysphagia	OMIM:615348
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Abnormal facial shape, Hepatic steatosis, Microcephaly	ORPHA:26792
Subacute Inflammatory Demyelinating Polyneuropathy	Leukocytosis, Increased circulating IgG level, Severe infection	ORPHA:206594
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
X-Linked Ehlers-Danlos Syndrome	Gastroesophageal reflux, Thin skin	ORPHA:75497
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Pigmented Nodular Adrenocortical Disease, Primary, 2	Round face, Kyphosis, Ovarian cyst, Thin skin, Pancreatitis, Striae distensae	OMIM:610475
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplas...	OMIM:614900
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Sensorineural he...	ORPHA:3241
Charcot-Marie-Tooth Disease, Type 4C	Prolonged brainstem auditory evoked potentials, Tongue atrophy, Hammertoe, Talipes equinovarus, T...	OMIM:601596
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Anteverted nares, Depressed nasal bridge, Hypoplasia of the pons, Sensorineural heari...	OMIM:616430
Histidinuria Due To A Renal Tubular Defect	Smooth philtrum, Thin upper lip vermilion, Sensorineural hearing impairment, Wide nasal bridge, S...	OMIM:235830
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Coarse facial features, Cerebellar vermis hypoplasia, Cryptorchidism, S...	OMIM:618067
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypopl...	ORPHA:1512
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Polycystic ovaries,...	ORPHA:1643
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Cerebellar vermis hypoplas...	OMIM:619841
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Clinodactyly of the 5th finger, Advanced eruption of teeth, Preauricular pit, Fi...	ORPHA:1519
Orofaciodigital Syndrome Type 14	Short neck, Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Aplasi...	ORPHA:434179
White Forelock With Malformations	Finger syndactyly, Epicanthus, Deep philtrum, White forelock, Clinodactyly of the 5th finger, Spi...	ORPHA:2475
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Aspiration pneumonia, Lon...	ORPHA:2020
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Cerebral white matter atrophy, Short neck, Abnormal globus pallidus morphol...	ORPHA:99646
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Squamous cell carcinoma of the skin, Nail dystrophy, Myelodysplasia	OMIM:620365
Whim Syndrome	Lymphadenitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnorma...	ORPHA:51636
Progeroid Syndrome, Petty Type	Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in...	ORPHA:2963
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck	ORPHA:2744
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Hip dislocation, Cerebral atrophy, Respiratory insufficiency, Tongue fasciculatio...	OMIM:614678
Snakebite Envenomation	Epistaxis, Localized skin lesion, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Resp...	ORPHA:449285
Meckel Syndrome	Anophthalmia, Micrognathia, Asplenia, Depressed nasal ridge, Dandy-Walker malformation, Low-set, ...	ORPHA:564
X-Linked Intellectual Disability, Nascimento Type	Hypointensity of cerebral white matter on MRI, Hypoplasia of the pons, Abnormal hair whorl, Deep ...	ORPHA:163956
Galloway-Mowat Syndrome 1	Micrognathia, Prominent nose, Hypoplasia of the iris, Hypoplasia of the brainstem, High palate, P...	OMIM:251300
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Microcephaly, Cleft palate, Macr...	OMIM:181180
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Choanal atresia, Absent t...	OMIM:603457
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Ep...	ORPHA:783
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Abnormal morphology of fema...	ORPHA:1790
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Cryptorchidism, Postaxial hand polyd...	ORPHA:2473
Johanson-Blizzard Syndrome	Single transverse palmar crease, Anteriorly placed anus, Downturned corners of mouth, Hepatic fib...	OMIM:243800
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Cantú Syndrome	Short neck, Low anterior hairline, Generalized hirsutism, Long philtrum, Finger syndactyly, Broad...	ORPHA:1517
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Preauricular pit, Thin upper lip vermilion, Anteverted nares, Bulbous nose, Hip dislocation, Wide...	OMIM:618547
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Down-sloping shoulders, Single transverse palmar crease, Micrognathia, P...	OMIM:616200
Succinic Acidemia	Respiratory distress	OMIM:600335
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Esophageal atresia, Cryptorchidism, Ventral shortening of foreskin, Cleft palate, ...	ORPHA:95706
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Hematochezia, Inflammatio...	OMIM:615895
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate...	ORPHA:3320
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Abnormal nasal morphology, Non-...	ORPHA:1104
Angiostrongyliasis	Increased circulating IgA level, Unusual CNS infection, Hypereosinophilia, Increased circulating ...	ORPHA:74
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Depressed nasal bridge, Single transverse palmar crease, Kyphosi...	OMIM:609128
9q subtelomeric deletion syndrome	Anteverted nares, Microcephaly, Protruding tongue, Synophrys, Short nose	DECIPHER:52
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra...	OMIM:616974
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Posteriorly rotated ears, Widow's peak, Sensorine...	ORPHA:2143
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Hyperlordosis, Intrinsic hand muscle atrophy, Respiratory insuf...	OMIM:620285
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Thick eyebrow, Arachnodactyly, Micrognathia, Precocious puberty, Pr...	OMIM:618971
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Recurrent infections, Increased ci...	OMIM:617591
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Cryptorchidism, Fibular hypoplas...	OMIM:612447
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Congenital hip dislocation, Rocker bottom foot, Single transverse palmar crease, Pyloric stenosis...	OMIM:133705
Intellectual Developmental Disorder, Autosomal Dominant 22	Thin upper lip vermilion, Round face, Depressed nasal bridge, Abnormal pinna morphology, Highly a...	OMIM:612337
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Abnormality of the dentition, Conductive hearing impairment, Atresia of the external auditory can...	OMIM:221320
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Cerebral calcification, Aplasia/Hypoplasia ...	ORPHA:1782
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Down-sloping shoulders, Sensorineur...	OMIM:606071
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Coarse facial features, Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Short toe,...	ORPHA:3085
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Subcutaneous nodule, Metatarsal os...	OMIM:259600
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Hip dysplasia, Scoli...	ORPHA:496790
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O...	ORPHA:3016
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal hair morphology, Lack of skin elasticity, ...	ORPHA:1979
Limb-Mammary Syndrome	Cleft hard palate, Protruding ear, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uv...	ORPHA:69085
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Bilateral cleft lip and palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis	ORPHA:1473
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Short neck, Synophrys, Low an...	ORPHA:495875
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Kyphoscoliosis, Underdeveloped nasal alae, Cryptorchidism, Oligodontia,...	ORPHA:412035
Bethlem Myopathy 2	Scapular winging, Kyphosis, Hip dislocation, Atrophic scars, Scoliosis	OMIM:616471
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger...	ORPHA:306542
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Hyperlordosis, Spinal rigidity, Kyphosis, Microcephaly, Respiratory insufficiency, Scoliosis	OMIM:617404
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Broad...	OMIM:619472
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Primary microcephaly	OMIM:245570
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa, Intrauterine growt...	OMIM:614602
1Q41Q42 Microdeletion Syndrome	Coarse facial features, Hypergonadotropic hypogonadism, Depressed nasal bridge, Broad nasal tip, ...	ORPHA:250999
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Abnormal morphology of ulna, Short neck, Low posterior hairline, Hypogona...	ORPHA:2233
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Hirsutism, Facial erythema, Thin skin, Biconcave vertebral bodies, Ecchymosis, Vertebra...	OMIM:219090
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Hepatomegaly, Respiratory failure, Stillbirth, Tongue fasciculations, Hypoplasi...	OMIM:614922
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Short neck, Synophrys, High palate, Conductive hearing impa...	OMIM:102500
Lateral Meningocele Syndrome	Vertebral fusion, Dental crowding, Posteriorly rotated ears, Micrognathia, Abnormality of the mid...	OMIM:130720
Native American Myopathy	Micrognathia, Cryptorchidism, Conductive hearing impairment, Cleft palate, Abnormal curvature of ...	ORPHA:168572
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Chromomycosis	Multiple cutaneous malignancies, Squamous cell carcinoma	ORPHA:182
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Coarse facial features, Hypoventilation, Depressed nasal ...	OMIM:618493
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Sparse scalp hair, Alopecia, Dental crowding, Sparse eyelashes, Limited elbow ...	OMIM:614008
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Synophrys, High palate...	OMIM:619777
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Proximal placement of thumb, Microcephaly, Highly arched eyebrow, Peris...	OMIM:619121
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
6P22 Microdeletion Syndrome	Epicanthus, Finger syndactyly, Clinodactyly, Abnormal palate morphology	ORPHA:251046
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Sparse eyebrow, Abnormal eyelash morphology, Widow's peak, Bilat...	ORPHA:2399
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Pilomatrixoma, Adrenocortical carcinoma, Medulloblastoma, ...	ORPHA:247806
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Spina bifida occulta, Thin skin	ORPHA:230839
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Diffuse white matter abnormalities, High palate, Abnormal facial shape, Mi...	ORPHA:457359
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Fg Syndrome 5	Anteverted nares, Hypospadias, Depressed nasal bridge, Diastema, Long philtrum, Short nose	OMIM:300581
Geleophysic Dysplasia 1	Hepatomegaly, Round face, Anteverted nares, Camptodactyly of finger, Coxa valga, Short nose, Lack...	OMIM:231050
Noonan Syndrome 6	Curly hair, Juvenile myelomonocytic leukemia, Short stature, Long eyebrows, Low posterior hairlin...	OMIM:613224
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Microcephaly, Dyspnea, Scoliosis, Co...	ORPHA:86812
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Downturned corners of mouth, ...	ORPHA:487796
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, High palate, Conductive hearing impairment...	ORPHA:740
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Potter facies	OMIM:619887
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Narrow face, Cerebellar vermis hypoplasia, Small scrotum, Short neck, Prot...	OMIM:620330
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia...	ORPHA:210122
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis	OMIM:604117
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Upslanted palpebral fissure, Widely spaced teeth, Clinodactyly	OMIM:619092
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ...	ORPHA:534
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Posteriorly rotated ears, Broad nasal tip, Partia...	OMIM:222448
Craniofacial Microsomia 1	Anophthalmia, Hemifacial hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anot...	OMIM:164210
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Cryptorchidism,...	OMIM:614732
Deafness, X-Linked 7	Posteriorly rotated ears, Wide nasal bridge, Unilateral microphthalmos, Atresia of the external a...	OMIM:301018
Androgen Insensitivity Syndrome	Sparse pubic hair, Neoplasm, Absent facial hair, Sparse axillary hair	OMIM:300068
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Split hand, Kyphosis, Scoliosis	OMIM:618124
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Reduced vital capacity, Kyphoscoliosis, ...	ORPHA:99956
Anauxetic Dysplasia 2	Short stature, Nail dysplasia, Small nail, Sparse hair, Intrauterine growth retardation	OMIM:617396
Dystrophic Epidermolysis Bullosa Pruriginosa	Subcutaneous nodule, Abnormality of the elbow, Hyperkeratosis, Atrophic scars, Dermal atrophy, Na...	ORPHA:89843
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Microcephaly, Hypoplasia of the pons, Abnormality of the dentition...	ORPHA:88618
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Acantholysis	ORPHA:455
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Microcephaly, Male pseudohermaphroditism, Abnorma...	ORPHA:1422
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Cleft palate, Malar f...	OMIM:611867
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Microcephaly, Cleft lip, Cryptorchidism, Kyphosis, As...	OMIM:619123
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, In...	ORPHA:258
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly, Abnormality of the dentition	OMIM:615982
Sifrim-Hitz-Weiss Syndrome	Coarse facial features, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Cupped ear...	OMIM:617159
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Pallor	OMIM:613561
Leopard Syndrome 1	Mandibular prognathia, Limited elbow movement, Short neck, Depressed nasal ridge, Protruding ear,...	OMIM:151100
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Hearing impairmen...	ORPHA:2484
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tented upper lip vermilion, Apnea, Thin vermilion border, High palate, Secondary microcephaly, Hy...	OMIM:618056
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polydactyly,...	OMIM:619879
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Hartnup Disorder	Glossitis	OMIM:234500
Srd5A3-Cdg	Elevated hepatic transaminase, Optic disc hypoplasia, Abnormal hair morphology, Kyphosis, Abnorma...	ORPHA:324737
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Squamous cell carcinoma of the skin, Basal cell carcinoma, Albinism	ORPHA:79431
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Triangular face, Spontaneous pneumothorax, Narrow nasal ridge, Facial wrinklin...	OMIM:606721
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ...	OMIM:618213
Hypermobile Ehlers-Danlos Syndrome	Apnea, Malabsorption, Abnormality of the dentition, Elbow dislocation, Abnormality of the gingiva...	ORPHA:285
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Sensorineur...	OMIM:220110
Rodrigues Blindness	Narrow nasal bridge, Nasal flaring, Protruding ear, Fine hair, Abnormal facial shape, Sparse hair...	OMIM:268320
Crouzon Syndrome	Mandibular prognathia, Abnormality of the cervical spine, Dental crowding, Hypoplasia of the maxi...	OMIM:123500
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Single transverse palmar crease, Micrognathia, Bilatera...	OMIM:150230
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Intellectual Developmental Disorder, Autosomal Recessive 5	Short stature, Postnatal growth retardation, Synophrys, Sparse hair, Thick eyebrow	OMIM:611091
Image Syndrome	Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Micromelia, Cryptorchidism, Hypogonad...	ORPHA:85173
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Squamous cell carcinoma, Growth delay, Nail dysplasia, Delayed puberty, Anonychia, Absent toenail	ORPHA:89842
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Short stature, Sparse eyebrow, Reduced hair sulfur content, Spar...	OMIM:300953
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Bif...	ORPHA:2461
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
White-Kernohan Syndrome	Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Anteriorly placed anus, Gastroesopha...	OMIM:619426
Intellectual Developmental Disorder, Autosomal Recessive 72	Thin upper lip vermilion, Narrow nasal base, Posteriorly rotated ears, Wide nasal ridge, Microcep...	OMIM:618665
Bnar Syndrome	Anal stenosis, Abnormal fifth toe morphology, Short lingual frenulum, Anteriorly placed anus, Bif...	ORPHA:217266
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Coloboma, Triphalangeal thumb, Chorioretinal coloboma, Iris coloboma, Hypo...	ORPHA:959
Fryns Microphthalmia Syndrome	Anophthalmia, Abnormality of the ear, Bilateral cleft lip and palate, Abnormality of the vertebra...	OMIM:600776
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Solar Urticaria	Dyspnea, Vertigo, Abnormal tongue morphology, Wheezing, Abnormal lip morphology	ORPHA:97230
Lichen Planopilaris	Alopecia, Hypopigmented skin patches, Skin ulcer, Hepatitis, Hyperkeratosis, Abnormal intestine m...	ORPHA:525
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Hip d...	OMIM:615290
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly, Coloboma	ORPHA:141333
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Coarse facial features, Caudate atrophy, Cerebral atrophy, Respiratory failure, Cir...	ORPHA:363400
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Square face, Micrognathia, Microcephaly, Splenomegaly, Diffuse white matter abnorma...	OMIM:259720
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bifid scrotum, Cerebellar vermis hypoplasia, Dental crowding, Uplifted ear...	ORPHA:261537
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Palmoplantar hyperkeratosis, High palate, Short philtrum, Macrovesicular hepatic st...	OMIM:619127
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Microcephaly, Male pseudohermaphrodit...	OMIM:600092
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance...	OMIM:215045
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Recurrent bronchitis, Acute lymphoblastic leukemia,...	OMIM:208900
Noonan Syndrome	Micrognathia, Abnormality of the spleen, Coarse hair, High palate, Thickened helices, Clinodactyl...	ORPHA:648
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De...	OMIM:112350
Cowden Syndrome	Subcutaneous nodule, Hamartomatous polyposis, High palate, Abnormality of the uterus, Papule, Mac...	ORPHA:201
Osteogenesis Imperfecta, Type Iii	Triangular face, Protrusio acetabuli, Micrognathia, Kyphosis, Tibial bowing, Slender long bone, S...	OMIM:259420
Hurler-Scheie Syndrome	Hepatomegaly, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Thenar muscle atroph...	OMIM:607015
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Wid...	OMIM:601499
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Single transverse palmar crease, Microcephaly, Partial agenesis of...	ORPHA:79243
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Mic...	OMIM:618348
Hypophosphatasia, Infantile	Death in infancy, Apnea, Micromelia, Bowing of the legs, Abnormality of the dentition, Vertebral ...	OMIM:241500
Branchiootic Syndrome 1	Preauricular pit, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal,...	OMIM:602588
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Monosomy 18Q	Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Bilateral cryptorchidism,...	ORPHA:1600
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormality of the dentition, Absent eyelashes, Abno...	OMIM:607823
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin	OMIM:607936
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Narrow mouth, Overfolded helix, Hypoplasia of the cor...	OMIM:613735
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Aganglionic megacolon, Prominent nasal bridge, Kyphosis, Oval face, Low anterior ...	ORPHA:261222
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Hypoplasia of the ulna, Syndactyly, Broad hallux, Hypoplasia o...	OMIM:212780
Darier-White Disease	Enlargement of parotid gland, Palmar pits, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Microcephaly, Micrognathia, Cerebral atrophy, Large earlobe, Secondary microcephaly, H...	OMIM:615851
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Joubert Syndrome 1	Central apnea, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Anteverted nares, Hig...	OMIM:213300
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Median cleft lip, Depressed nasal bridge, Accessory oral fren...	OMIM:617088
Joubert Syndrome 2	Central apnea, Agenesis of cerebellar vermis, Depressed nasal bridge, Episodic tachypnea, Postaxi...	OMIM:608091
Amish Lethal Microcephaly	Death in infancy, Hepatomegaly, Cerebellar vermis hypoplasia, Cleft soft palate, Micrognathia, Mi...	ORPHA:99742
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Prominent nose, Sparse eyebrow, Cutis laxa, Protruding ear, Long philtr...	OMIM:619691
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Hereditary Mucoepithelial Dysplasia	Alopecia, Anorectal anomaly, Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue, Fin...	ORPHA:1839
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Ptosis, Toe syndactyly, Arachnodactyly, Lacrimal duct stenosis, Sparse eyebrow...	ORPHA:73246
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Microphthalmia	OMIM:615665
Pachyonychia Congenita 2	Subungual hyperkeratosis, Oral leukoplakia, Palmoplantar hyperkeratosis	OMIM:167210
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Absent thumb, Microcephaly, Short thumb, Short ...	OMIM:609053
Roifman-Chitayat Syndrome	Short metacarpal, Depressed nasal bridge, Pneumonia, Short neck, Thin lower lip vermilion, Short ...	OMIM:613328
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Absent septum pelluci...	OMIM:613884
Warburg Micro Syndrome 4	Decreased testicular size, Small scrotum, Anteverted nares, Prominent nasal bridge, Narrow mouth,...	OMIM:615663
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Sensorineural hearing impairment, Microtia, Everted lower lip vermilion, ...	OMIM:275630
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Round face, Thin skin, Striae distensae	OMIM:219080
Chromosome Xq13 Duplication Syndrome	Mandibular prognathia, Thin upper lip vermilion, Medial flaring of the eyebrow, Posteriorly rotat...	OMIM:301069
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of the vertebral ...	ORPHA:1354
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Macroglossia, Hypoplasia of the brainstem, Cerebellar...	OMIM:613155
Pemphigus Erythematosus	Oral ulcer, Acantholysis	ORPHA:79480
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Cartilage-Hair Hypoplasia	Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Short palm, Sparse hair, Lum...	OMIM:250250
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Synophrys, Gastrointestinal dysmotility, Downturned corners of m...	ORPHA:466943
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Coarse facial features, Cerebral calcification, Lumbar hyperlordosis, Thick...	ORPHA:505248
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Low-set ear...	OMIM:616395
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Anteverted nares, Absent septum pellucidum, Highly arched eyebrow, Protrudin...	ORPHA:96147
Odontoonychodermal Dysplasia	Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth, Smooth tongu...	OMIM:257980
Lelis Syndrome	Mandibular prognathia, Long face, Carious teeth, Yellow nails, Palmoplantar hyperkeratosis, Furro...	ORPHA:140936
Psoriasis 2	Hyperkeratosis, Parakeratosis, Scaling skin	OMIM:602723
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Microcephaly, Long nose, Protruding ear, Abnormal facial shape, Open mouth, Triangular face, Long...	ORPHA:85329
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar vermis hypoplasia, Deep philtrum, Synophrys, Downturned corners of mouth, Gastroesopha...	OMIM:617330
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ...	OMIM:276820
Laurence-Moon Syndrome	Finger syndactyly, Epicanthus, Brachydactyly, Hand polydactyly, Iris coloboma, Bilateral single t...	ORPHA:2377
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Respiratory insufficiency, Postaxial foot...	ORPHA:474
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Progeria-Short Stature-Pigmented Nevi Syndrome	Thoracic scoliosis, Selective tooth agenesis, Micrognathia, Gastroesophageal reflux, Micropenis, ...	ORPHA:2959
Slc39A8-Cdg	Sudden episodic apnea, Elbow flexion contracture, Cutaneous syndactyly of toes, Abnormality of th...	ORPHA:468699
Radial Aplasia, X-Linked	Absent radius, Penile hypospadias, Anal atresia	OMIM:312190
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Coloboma, Long eyelashes, Long philtrum...	OMIM:615877
Mowat-Wilson Syndrome	Mandibular prognathia, Bifid scrotum, Cerebellar vermis hypoplasia, Dental crowding, Uplifted ear...	ORPHA:2152
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus	ORPHA:2476
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type	Coarse facial features, Prominent nose, Bulbous nose, Thick nasal alae, Triangular face	ORPHA:293707
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Restrictive Dermopathy	Micrognathia, Scaling skin, Sparse hair, Aplasia/Hypoplasia involving the nose, Hypospadias, Spar...	ORPHA:1662
Dentici-Novelli Neurodevelopmental Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Microcephaly, Precocious puberty, Simplified gy...	OMIM:619877
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Congenital Varicella Syndrome	Micromelia, Microcephaly, Atypical scarring of skin, Microphthalmia, Cerebral cortical atrophy	ORPHA:291
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Widow's peak, Hand polydactyly, High palate, Downslanted palpebral fiss...	OMIM:239710
Stüve-Wiedemann Syndrome	Respiratory distress, Bowing of the long bones, Sacral dimple, Apnea, Camptodactyly of finger, Mi...	ORPHA:3206
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Erythema, Periauricular skin pits, Atrophic scars, Skin pit, Fol...	ORPHA:79100
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment, Depressed nasal ridge, Respiratory failure, Limb undergrowth, Abno...	ORPHA:1861
Tularemia	Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Localized skin lesio...	ORPHA:3392
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Thin upper lip vermilion, Lumbar hyperlordosis, Abnormal location of the eyebrow, ...	ORPHA:522077
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Dec...	OMIM:614576
Zika Virus Disease	Increased circulating IgM level, Infectious encephalitis, Thrombocytopenia, Meningitis	ORPHA:448237
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Recurrent infections...	OMIM:615688
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Wide nose, Sandal gap, High palate, Long philtrum, Clinodactyly of the ...	OMIM:616652
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Petechiae, Thin skin, Striae distensae	OMIM:225310
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebro...	OMIM:618644
Silver-Russell Syndrome 3	Relative macrocephaly, Syndactyly, Ambiguous genitalia, Unilateral cryptorchidism, Small hand, Me...	OMIM:616489
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Hepatomegaly, Rhizomelia, Supernumerary nipple, Short iliac bones, Meta...	OMIM:614376
Isotretinoin Embryopathy-Like Syndrome	Anotia, Microtia, Cleft palate, Micrognathia	OMIM:243440
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Inspiratory strid...	OMIM:618618
Irida Syndrome	Hyperkeratosis, Abnormal intestine morphology, Pallor	ORPHA:209981
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Microcephaly, Convex...	OMIM:619321
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Cryptorchidism, Senso...	ORPHA:139471
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Bachmann-Bupp Syndrome	Macrocephaly at birth, Thin upper lip vermilion, Absent eyebrow, Cerebral calcification, Sparse e...	OMIM:619075
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Meckel Syndrome, Type 2	Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Anencephaly, Cleft ...	OMIM:603194
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bowing of the ...	OMIM:112250
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Emphysema,...	ORPHA:289
Sandhoff Disease	Hepatomegaly, Kyphosis, Splenomegaly, Macrocephaly, Hearing impairment	ORPHA:796
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Cholecystitis, Broad metacarpals, Hepatomegaly, Depressed nasal bridge, Tapered finger...	OMIM:301066
Short Stature, Microcephaly, And Endocrine Dysfunction	Triangular face, Prominent nasal bridge, Microcephaly, Long nose, Cryptorchidism, Clinodactyly, B...	OMIM:616541
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Flynn-Aird Syndrome	Alopecia, Cerebral calcification, Carious teeth, Kyphosis, Skin ulcer, Dermal atrophy, Scoliosis,...	ORPHA:2047
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ...	ORPHA:2557
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypo...	OMIM:617523
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Single transverse palmar crease, Synophrys, Gastroesophageal reflux, Short palm, Prominent finger...	ORPHA:466950
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Reduced cerebral white matter volume, Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtr...	OMIM:280000
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 toe syndactyly, S...	OMIM:618914
Parietal Foramina With Cleidocranial Dysplasia	Microtia, Short clavicles, Dermoid cyst, Macrocephaly	OMIM:168550
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Bilateral cryptorchidism, Pyloric stenosis, Hig...	ORPHA:314575
Isolated Childhood Apraxia Of Speech	Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Abnormal caudate nucleus morph...	ORPHA:209908
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Neoplasm of the lung, Melanoma, Neoplasm of the skin, S...	ORPHA:659
Kabuki Syndrome	Hypoplasia of penis, Hemivertebrae, Orofacial cleft, Protruding ear, Abnormal form of the vertebr...	ORPHA:2322
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula...	OMIM:619386
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Respiratory failure, Jaundice	ORPHA:890
Infantile Systemic Hyalinosis	Short palm, Abnormality of the gastrointestinal tract, Coarse facial features, Abnormal dental mo...	ORPHA:2176
Prune Belly Syndrome	Congenital hip dislocation, Cryptorchidism, Xerostomia, Talipes equinovarus, Anal atresia	OMIM:100100
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Short stature, Sparse hair, Hemangioma, Alopecia of...	OMIM:615280
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Geleophysic Dysplasia 2	Thin upper lip vermilion, Hepatomegaly, Ovoid vertebral bodies, Respiratory insufficiency, Cone-s...	OMIM:614185
B4Galt1-Cdg	Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Redundant neck skin, Splen...	ORPHA:79332
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Cerebral calcification, Sclerotic vertebral body, Kyphosis, Metaphyse...	OMIM:618476
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Preauricular pit, Microcephaly, Underdeveloped nasal alae, Cleft palate, Webbed neck, Hydranencep...	OMIM:601355
Kindler Epidermolysis Bullosa	Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Short 5th metacarpal, Ab...	ORPHA:2908
Craniofrontonasal Syndrome	Short neck, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Broad hallux, Hypospadia...	OMIM:304110
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	Sensorineural hearing impairment, Ectopic anus	ORPHA:2866
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Coloboma, Orofacial cleft	ORPHA:324416
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Microcephaly, Cerebral atrophy, Hyperkeratosis, Thin vermilion border, Scaling ...	OMIM:609180
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Con...	OMIM:130060
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, High, narrow palate, Kyphosis, Shoulder dislocation, Scoliosis, Adducted thumb	ORPHA:2181
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin, Abnormal mandible morphology, Facial asymmetry, Micrognathia	ORPHA:1214
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Hearing impairment, ...	ORPHA:137634
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Hypoplastic iliac wing, Anterior wedging of L1, Hepatomegaly, Lumbar hyperl...	OMIM:253200
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Single transverse palmar crease, Anteverted ears, Protruding ear, Gastroes...	ORPHA:459070
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Kyp...	OMIM:614557
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Anteverted nares, Short nail, Short neck, Kyphosis, Partial ...	ORPHA:420794
Osteogenesis Imperfecta	Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Cervical kyphosis, Abn...	ORPHA:666
Microphthalmia, Syndromic 6	Small scrotum, Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Pro...	OMIM:607932
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Recurrent upper respiratory tract infections, Microtia	OMIM:620137
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Microcephaly, Cerebral atrophy, Wide mouth, Low-set e...	OMIM:103050
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma	OMIM:617525
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Neonatal respiratory distress, Esophageal stenosis, Prominent nose, Downturned corners of mouth, ...	OMIM:615510
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul...	ORPHA:2741
Leigh Syndrome	Sensorineural hearing impairment, Respiratory insufficiency, Hepatocellular necrosis, Respiratory...	OMIM:256000
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Dacryocystitis, Abnormal pelvis bone ossification, A...	ORPHA:166119
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Talipes equinovarus, Scoliosis	OMIM:600175
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Cleft upper lip, Short neck, Long fingers, ...	OMIM:614294
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Microcephaly, Short neck, De...	OMIM:616038
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Floating-Harbor Syndrome	Short neck, Hypoplasia of the maxilla, Long nose, Oligodontia, Humeral pseudarthrosis, Short phil...	ORPHA:2044
Immunodeficiency 58	Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec...	OMIM:618131
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Khan-Khan-Katsanis Syndrome	Sacral dimple, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Postaxial polydactyly, M...	OMIM:618460
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Skin tags, Micrognathia, Conical tooth, Anteverted ears, Aplasia of the inner ear, Widely spaced ...	OMIM:610706
Acute Generalized Exanthematous Pustulosis	Conjunctivitis, Cheilitis, Acantholysis	ORPHA:293173
Septopreoptic Holoprosencephaly	Megalencephaly, Hypoplasia of the pons, Microcephaly, Precocious puberty, Perisylvian polymicrogy...	ORPHA:280195
Cole-Carpenter Syndrome 2	Microretrognathia, Triangular face, Kyphosis, Platyspondyly, High palate, Macrocephaly, Narrow il...	OMIM:616294
Marbach-Rustad Progeroid Syndrome	Triangular face, Femur fracture, Delayed eruption of primary teeth, Micrognathia, Microcephaly, E...	OMIM:619322
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef...	OMIM:617337
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Incontinentia Pigmenti	Conical tooth, Hemivertebrae, Oligodontia, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alo...	OMIM:308300
Meckel Syndrome 12	Agenesis of cerebellar vermis, Anteverted nares, Rocker bottom foot, Micrognathia, Microcephaly, ...	OMIM:616258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Low anterior hairli...	OMIM:613153
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Anencephaly, Cleft palate,...	OMIM:611561
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Protruding ear, High palate, Widely spaced ...	OMIM:218330
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Epicanthus, Toe syndactyly, Alopecia, Short hallux, Abnormality of the dentiti...	ORPHA:3224
Meckel Syndrome, Type 4	Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial hand polydactyly...	OMIM:611134
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Micrognathia, Albinism, High palate, Agenesis of co...	OMIM:242840
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypospadias, Hypoplasia of the maxilla, ...	OMIM:180500
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Thin upper lip vermilion, Prominent nose, Asthma, Oligodontia, Hypodontia, Thin eyebrow, Narrow m...	OMIM:618092
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Exaggerated cupid's bow...	OMIM:619306
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bifid scrotum, Cerebellar vermis hypoplasia, Dental crowding, Uplifted ear...	ORPHA:261552
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Dysphagia	ORPHA:216873
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Numerous nevi, Calcaneovalgus deformity, Protruding ear, Prominent fingertip...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Numerous nevi, Calcaneovalgus deformity, Protruding ear, Prominent fingertip...	ORPHA:363958
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Wide nose, Broad hallux, Arachnodactyly, Prominent nasal bridge, Prominent nose, Convex nasal rid...	OMIM:601552
Pterygium Colli, Isolated	Short nose, Protruding ear, Low posterior hairline, Webbed neck	OMIM:177990
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral white matter atrophy, Microcephaly, Kyphosis, Sensorineural hearing impairment, Hip disl...	ORPHA:464282
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Hypospadias, Bulbous nose, Oligodontia, Low-set ears, Long face	OMIM:618330
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Subcutaneous nodule, Abnormal respiratory system ph...	ORPHA:449280
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ...	ORPHA:508542
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Intrauterine growth retardation, Short stature, Sparse facial hair, Sparse axillary hair	OMIM:608154
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Aganglionic megacolon, Absent septum p...	ORPHA:3339
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal...	ORPHA:3250
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Choanal atresia, Prominent nasal bridge, Lop ear, Bilateral cryptorchid...	OMIM:300472
Hydrolethalus Syndrome 1	Micrognathia, Agenesis of corpus callosum, Dandy-Walker malformation, Accessory spleen, Hypospadi...	OMIM:236680
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, P...	OMIM:301068
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Small scrotum, Pro...	OMIM:300486
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Keutel Syndrome	Long face, Wide nose, Alopecia, Depressed nasal bridge, Hearing impairment, Underdeveloped nasal ...	ORPHA:85202
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose, Simplified gyral patter...	OMIM:613454
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowing, Congenital bilateral hip disloca...	ORPHA:453510
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Chronic mucocutaneous candidia...	ORPHA:227990
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Broad palm...	ORPHA:93351
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Posteriorly rotated ears, Tarsal synostosis, Microcephaly, Sho...	OMIM:178110
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
3Mc Syndrome 2	Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Limited elbow movement, Cleft ...	OMIM:265050
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Micrognathia, Wrist swelling, Hypoplasia of the maxilla, Osteolysis ...	OMIM:166300
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death, Adducted ...	OMIM:619334
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Pr...	ORPHA:1587
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ...	OMIM:608647
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Hepatic fibrosis, Hypoplastic iliac wing, Short ...	OMIM:208500
Oculo-Palato-Cerebral Syndrome	Microcephaly, High, narrow palate, Asthma, Small hand, Cleft palate, Aplasia/Hypoplasia of the co...	ORPHA:2714
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Hepatic fibrosis, Micropenis, Pachygyria, Hamartoma of tongue, Poly...	OMIM:263520
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Kyphosis, Small hand, Functional abnormality of the ga...	ORPHA:3095
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Microcephaly, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth	ORPHA:2204
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Prominent nose, Bilateral cryptorchidism, High, narrow palate, Widely spaced tee...	ORPHA:466791
Summitt Syndrome	Syndactyly	OMIM:272350
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Supernumerary nipple,...	OMIM:618929
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Intrauterine growth retardation, Alopecia, Nail dystrophy	OMIM:616353
Desbuquois Syndrome	Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo...	ORPHA:1425
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Hepatomegaly, Dental crowding, Down-sloping shoulders, Narrow nasal ...	OMIM:248370
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Vertigo, Scoliosis, Hand clenching, Craniofacial disproportion	ORPHA:37612
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Block vert...	OMIM:306955
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation...	OMIM:243180
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm...	ORPHA:93958
Halperin-Birk Syndrome	Micrognathia, Hip dislocation, Death in childhood, Pseudobulbar paralysis, Thick vermilion border...	OMIM:618651
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, High palate...	OMIM:271225
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Prader-Willi Syndrome	Small scrotum, External genital hypoplasia, Downturned corners of mouth, Clitoral hypoplasia, Sho...	OMIM:176270
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Coarse facial features, Protruding tongue, Generalized hyp...	ORPHA:93400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Back pain, Single transverse palmar crease, High, narrow palate, Synophrys, Protru...	OMIM:619475
Shwachman-Diamond Syndrome 1	Respiratory distress, Hepatomegaly, Neonatal respiratory distress, Elevated hepatic transaminase,...	OMIM:260400
Menkes Disease	Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation	OMIM:309400
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Coarse facial features, Posteriorly rotated ears, Microcephaly, Deep philtrum, Respiratory insuff...	OMIM:617260
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Hepatomegaly, Narrow face, Elevated hepatic transaminase, Anteverted nares,...	OMIM:615273
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Pilomatrixoma, Adrenocortical carcinoma, M...	ORPHA:79665
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Multifocal hyperintensity of cerebral white matter on MRI, Respiratory distress, Respiratory fail...	ORPHA:308552
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Myelodysplasia, Nail pits, Premature graying of hair, Squamous cell carcin...	OMIM:127550
Oculocutaneous Albinism Type 2	Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Basal cell carcinoma, Squam...	ORPHA:79432
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Hyperparakeratosis, Hydrocele testis, Microtia, Foot polydactyl...	ORPHA:276280
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre...	OMIM:248500
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Round face, Thin skin, Striae distensae	OMIM:610489
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Papillary...	ORPHA:363618
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Thoracic kyphoscoliosis, Ulnar deviation of the hand, Anteverted nares,...	OMIM:616503
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Micrognathia, Underdeveloped nasal ala...	OMIM:250410
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Short femur, Anteverted nares, Metaphyseal spurs, Depressed nasal bridge, W...	OMIM:618188
Myopathy And Diabetes Mellitus	Hyporeflexia of upper limbs, Sensorineural hearing impairment, Shoulder girdle muscle weakness, R...	ORPHA:2596
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Partial agenesis of the corpus callosum, ...	OMIM:615948
Malaria	Respiratory distress	ORPHA:673
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Thin upper lip vermilion, Apnea, Respiratory insufficiency, Secondary microcephaly, Long philtrum	OMIM:617290
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cerebral calcification, Small scrotum, Tachypnea, High palate, Gastroesophageal reflux, Cough, Em...	OMIM:613658
Galloway-Mowat Syndrome 3	Arachnodactyly, Hiatus hernia, Micrognathia, Microcephaly, Hip dislocation, Simplified gyral patt...	OMIM:617729
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Anteverted nares, Depressed nasal bridge, Tapered finger, Abnormal hair morphology, Supernumerary...	ORPHA:86818
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Portal hypertension, Hypersplenism,...	OMIM:613385
Congenital Toxoplasmosis	Macule, Hepatomegaly, Elevated hepatic transaminase, Cerebral calcification, Microcephaly, Jaundi...	ORPHA:858
Peroxisome Biogenesis Disorder 11A (Zellweger)	Large face, Elevated hepatic transaminase, Anteverted nares, Depressed nasal bridge, Apnea, Lisse...	OMIM:614883
Proteus Syndrome	Pulmonary embolism, Subcutaneous nodule, Abnormal finger morphology, Abnormal form of the vertebr...	ORPHA:744
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Scarring alopecia of scalp, Ski...	ORPHA:158684
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Abnormal pinna morphology, Pancreatic fibrosis, Micromelia, Shor...	OMIM:200995
Spondylometaphyseal Dysplasia, Pagnamenta Type	Triangular face, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarp...	OMIM:619638
Cloacal Exstrophy	Hypoplasia of penis, Intestinal malrotation, Abnormal tibia morphology, Hip dislocation, Absent f...	ORPHA:93929
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Highly arched eyebrow, Tapered finger, Microcephaly, Cryptorchidism, Supernumera...	OMIM:618653
Nanophthalmos	Microphthalmia	ORPHA:35612
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Micrognathia, Abnormality of hair texture, Hyperlordosis, Synophrys, Dental mal...	ORPHA:73223
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme...	ORPHA:2639
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ...	OMIM:618021
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital finger flexion con...	ORPHA:1154
Pelviscapular Dysplasia	Congenital hip dislocation, Redundant neck skin, Short femur, Hypoplastic scapulae, Hearing impai...	ORPHA:93333
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile...	ORPHA:731
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Hypospadias, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, High ...	OMIM:619272
Pemphigus Foliaceus	Abnormal oral mucosa morphology, Oral ulcer, Acantholysis	ORPHA:79481
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Increased circulat...	ORPHA:2137
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea...	OMIM:300718
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Waardenburg Syndrome, Type 1	Mandibular prognathia, Thick eyebrow, White eyelashes, White eyebrow, Underdeveloped nasal alae, ...	OMIM:193500
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Hypoplasia of the ...	ORPHA:2249
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Sparse hair, Acantholysis	OMIM:615508
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Chronic mucocutaneous candidia...	ORPHA:227982
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistula, Scoliosis, Overfolded heli...	OMIM:617466
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Dysphagia, Scoliosis, Spinal rigidity	OMIM:618323
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Cryptorchidism, Kyphosis, Restrictive ventilatory defect, Bilateral talipes equin...	OMIM:618484
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Preauricular pit, Sacral dimple, Anteverted nares, Depressed nasal bridge, Micrognathia, Kyphosis...	OMIM:618272
Ollier Disease	Micromelia, Precocious puberty, Subcutaneous nodule, Skin ulcer, Platyspondyly, Abnormal metaphys...	ORPHA:296
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis, Dry skin	OMIM:612281
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma	OMIM:274270
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen...	OMIM:615771
Occipital Horn Syndrome	Cerebral calcification, High, narrow palate, Coxa vara, Humerus varus, Coarse hair, Gastroesophag...	ORPHA:198
Myopathy, Myofibrillar, 7	Tongue atrophy, Lumbar hyperlordosis, Shoulder flexion contracture, Spinal rigidity, Elbow flexio...	OMIM:617114
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Decreased circulating total IgM, Annular pancreas	OMIM:618162
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Congenital Muscular Dystrophy With Cerebellar Involvement	Lumbar hyperlordosis, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the ...	ORPHA:370959
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Coarse facial features, Hepatomegaly, Posteriorly rotated ears, Microce...	OMIM:608233
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, ...	OMIM:618278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Death in infancy, Cleft upper lip, Microcephaly, Spinal rigidity, Partial absence of cerebellar v...	OMIM:613150
Diphallia	Bifid scrotum, Abnormality of the gastrointestinal tract, Rectoperineal fistula, Hypospadias, Abs...	ORPHA:227
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Cerebral calcification, Pneumonia, Bowing of th...	ORPHA:1855
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Abnormal facial shape, Secondary microcephaly, Hypoplasia of the corpus...	ORPHA:289266
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Hepatomegaly, Tachypnea, Respiratory insufficiency, Respi...	OMIM:614299
Autosomal Recessive Spastic Paraplegia Type 53	Microcephaly, Abnormality of the auditory canal, Kyphosis, Cortical dysplasia, Upper limb hyperto...	ORPHA:319199
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Cholangitis, Erythema, Furrowed tongue, Nail dystrophy, G...	OMIM:614204
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Abnormal pinna morphology, Depressed nasal bridge, Hepatic pe...	OMIM:231680
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Microcephaly, Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure, Dysphagia	OMIM:616867
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Hypospadias, Microcephaly, Sensorineural hea...	ORPHA:209905
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le...	ORPHA:29073
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Hallux valgus, Mandibular prognathia, Wide nose, Dental crowding, Broa...	OMIM:614188
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent Aspergillus infections, Recurrent herpes, Autoimmune hemolytic anemia, Autoimmune throm...	ORPHA:391487
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Thin upper lip vermilion, Hepatomegaly, Congenital hip dislocation, Ulnar deviation of the 3rd fi...	ORPHA:456312
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Hypospadias, Choanal atresia, Absent radius, Esophag...	OMIM:192350
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly	OMIM:604757
Osteogenesis Imperfecta, Type Xi	Triangular face, Protrusio acetabuli, Kyphoscoliosis, Coxa vara, Vertebral wedging, Scoliosis, Bi...	OMIM:610968
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Macrocephaly, Abnormal facial shape, Triangul...	ORPHA:2867
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Coarse facial features, Kyphosis, Flared iliac wing, Platyspondyly, Sco...	OMIM:230650
Iga Pemphigus	Acantholysis, Oral mucosal blisters	ORPHA:555905
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Microcephaly, Cryptorchidism, Pr...	ORPHA:3047
Intellectual Developmental Disorder, X-Linked 107	Mandibular prognathia, Thin upper lip vermilion, Narrow face, Prominent crus of helix, Abnormalit...	OMIM:301013
Noonan Syndrome 12	Anteriorly placed anus, 11 pairs of ribs, Spinal canal stenosis, Proximal placement of thumb	OMIM:618624
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Swollen lip, Erythema, Upper airway obstruction	ORPHA:100057
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Missing ribs, Hemiverte...	OMIM:271520
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Stridor, Cough	ORPHA:142
Wrinkly Skin Syndrome	Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet, Coxa vara, ...	OMIM:278250
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Wide nose, Sandal gap, Abnormal pinna morphology, 2-3 toe syndactyly, T...	ORPHA:477817
Gm1-Gangliosidosis, Type I	Death in infancy, Coarse facial features, Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Depre...	OMIM:230500
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short nec...	OMIM:613686
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, 2-3 finger syn...	ORPHA:2437
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Fine hair, Growth delay, Delayed puberty, Sparse hair, Intrauterine growth retarda...	OMIM:616817
Severe Congenital Nemaline Myopathy	Hypospadias, Respiratory failure, Low-set ears, Dysphagia, Micropenis, Adducted thumb	ORPHA:171430
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyebrow, Microcephaly, Absent eyelashes, Short nose, Convex nasal ridge	OMIM:200130
X Small Rings	Thin upper lip vermilion, Coarse facial features, Toe syndactyly, Anteverted nares, Tapered finge...	ORPHA:96201
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Long face, Wide nose, Anteverted nares, Abnormal cortical gyration, Narrow mouth, Bulb...	ORPHA:314647
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Ptosis, Camptodactyly of finger, Narrow palate, Low posterior hairline, Abnorm...	ORPHA:1323
Juvenile Sialidosis Type 2	Hepatomegaly, Coarse facial features, Protruding tongue, Gingival overgrowth, Abnormal form of th...	ORPHA:93399
Noonan Syndrome 1	Micrognathia, Short neck, High, narrow palate, High palate, Hypospadias, Cryptorchidism, Low-set ...	OMIM:163950
Dyrk1A-Related Intellectual Disability Syndrome	Protruding ear, Hypoplasia of the brainstem, Gastroesophageal reflux, Clinodactyly of the 5th fin...	ORPHA:464306
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Microcephaly, ...	OMIM:147250
Bruck Syndrome	Bowing of the long bones, Kyphosis, Respiratory insufficiency, Platyspondyly, Talipes equinovarus...	ORPHA:2771
Toxic Epidermal Necrolysis	Macule, Gastrointestinal hemorrhage, Respiratory distress, Acute hepatic failure, Elevated hepati...	ORPHA:537
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Syndactyly, Abnormal ear morphology, Hypospadias, Sing...	ORPHA:1708
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Abnormally large globe, Respiratory insufficiency due to muscle weakness, Sensorine...	OMIM:615249
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Inspiratory stridor...	OMIM:604320
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Depressed nasal bridge, Accessory oral frenulum, Hamartoma of tongu...	OMIM:616546
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Intestinal malrotation, Bifi...	OMIM:258040
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Thin upper lip vermilion, Tented upper lip vermilion, Supernumerary nipple, Microcephaly, Everted...	OMIM:616579
Xeroderma Pigmentosum, Complementation Group C	Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	OMIM:278720
Williams Syndrome	Hypoplasia of penis, Narrow face, Redundant skin, Micrognathia, Rectal prolapse, Abnormal form of...	ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Subcortical cerebral atrophy, Sparse hair, Agenesis of corpus callosum, Abnormal vertebral morpho...	ORPHA:2273
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress	ORPHA:240103
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Hypoplasia of the pons, Kyphosis, Interstitial emphysema, Bronchiectasis, Inflammat...	OMIM:619708
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of...	OMIM:175500
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl...	ORPHA:2256
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Intestinal malrotation, Tracheoesophageal fistula, Respiratory insuf...	ORPHA:2973
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Tooth agenesis, Short...	OMIM:616229
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Micrognathia, Microcephaly, Brachioradialis areflexia, Trismus,...	OMIM:616271
White-Sutton Syndrome	Short neck, Hypoplasia of the pons, Downturned corners of mouth, Subcortical cerebral atrophy, Hi...	ORPHA:468678
Pelvis-Shoulder Dysplasia	Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Optic disc coloboma, Hypoplas...	OMIM:169550
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Kyphoscoliosis, Microcephaly, Sensorineural hearing impairment, Asthma, High p...	OMIM:620237
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Developmental And Epileptic Encephalopathy 1	Microcephaly, Dyspnea, Dysphagia, Microphthalmia, Micropenis, Global brain atrophy	OMIM:308350
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Downturned corners of mouth, Clitoral hyp...	ORPHA:398079
Isolated Arrhinia	Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas...	ORPHA:1134
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Hypogonadism, Cubitus valgus, Abnormality of the ovary	ORPHA:1875
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Cessation of head growth, Dys...	ORPHA:98794
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Refsum Disease	Short metacarpal, Splenomegaly, Sensorineural hearing impairment, Anosmia, Respiratory insufficie...	ORPHA:773
Thymoma	Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli...	ORPHA:99867
Congenital Myopathy 21 With Early Respiratory Failure	Spinal rigidity, Dyspnea, Respiratory failure, Nocturnal hypoventilation, Thin corpus callosum	OMIM:620326
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Vertigo, Peritonitis, Ga...	ORPHA:679
Immunodeficiency 54	Hepatomegaly, Microcephaly, Splenomegaly, Respiratory insufficiency, Respiratory failure	OMIM:609981
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Cryptorchidism, Sensorineural hearing impairment, Cerebral atrophy, Dysphagia, Deat...	OMIM:619847
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Familial Visceral Myopathy	Low-set, posteriorly rotated ears, Round face, Arachnodactyly, Aganglionic megacolon, Camptodacty...	ORPHA:2604
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Micromelia, Microcephaly, Postaxial hand polydactyly, Split h...	ORPHA:2491
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Thin upper lip vermilion, Round face, Unilateral cryptorchidism, Microcephaly, Oval face, Tempora...	OMIM:618862
Humeroradial Synostosis	Microtia, Small earlobe, Humeroradial synostosis, Wide nasal bridge	OMIM:236400
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Anteverted nares, Depressed nasal bridge, Jaundice, Macroglossia, Concave nasal ridge, Prolonged ...	OMIM:613038
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Chand Syndrome	Curly hair, Short fifth metatarsal, Depressed nasal bridge, Bifid tongue, Cleft palate, Agenesis ...	ORPHA:1401
Congenital Rubella Syndrome	Hepatomegaly, Microcephaly, Splenomegaly, Sensorineural hearing impairment, Jaundice, Aplasia/Hyp...	ORPHA:290
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Narrow face, Convex nasal ridge, Microcephaly, Death in adolescenc...	OMIM:610965
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Sparse scalp hair, Sparse eyebrow, Cleft palate, Iris coloboma, Ptosis	ORPHA:66629
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Syno...	OMIM:301091
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Thin upper lip vermilion, Hip contracture, Hypospadias, Kyphoscoliosis, Micrognathia, Microcephal...	OMIM:210730
Lissencephaly 8	Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplasia of the corpus callosum...	OMIM:617255
Congenital Tracheal Stenosis	Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe...	ORPHA:141127
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Downturned corne...	OMIM:619539
Adams-Oliver Syndrome 3	Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Aplasia cutis congeni...	OMIM:614814
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Kyphosis, Hearing impairment	OMIM:618237
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H...	ORPHA:206436
Neurocardiofaciodigital Syndrome	Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Sparse eyebrow, Thin vermilion border, Hi...	OMIM:619869
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,...	OMIM:608257
Gracile Bone Dysplasia	Death in infancy, Asplenia, Flared metaphysis, Hypoplastic spleen, Slender long bone, Aniridia, M...	OMIM:602361
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Phosphoribosylpyrophosphate Synthetase Superactivity	Triangular face, Depressed nasal bridge, Hypospadias, Cryptorchidism, Sensorineural hearing impai...	OMIM:300661
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi...	OMIM:615512
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hepatomegaly, Hyperlordosis, Respiratory insufficiency due to mu...	ORPHA:365
Osteogenesis Imperfecta, Type Ix	Kyphosis, Dentinogenesis imperfecta, Platyspondyly, Scoliosis, Short lower limbs	OMIM:259440
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Prominent nose, Basal ganglia calcification, Ivory epiphyses of ...	OMIM:216400
Primary Dystonia, Dyt4 Type	Respiratory distress, Kyphoscoliosis, Dysphagia, Movement abnormality of the tongue, Open mouth	ORPHA:98805
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Lopes-Maciel-Rodan Syndrome	Caudate atrophy, Kyphosis, Small hand, Cerebral atrophy, Short foot, Scoliosis, Dysphagia	OMIM:617435
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Fucosidosis	Hepatomegaly, Coarse facial features, Abnormality of the dentition, Kyphosis, Abnormality of the ...	ORPHA:349
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Lymphangiectasia, Pulmonary, Congenital	Depressed nasal bridge, Wide nasal bridge, Chylothorax, Malar flattening, Pleural effusion, Flat ...	OMIM:265300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Macroglossia, Restricti...	OMIM:607155
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Prominence of the premaxilla, Prominent nose, Microcephaly, Wide n...	OMIM:614886
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Alopecia, Abnormal oral mucosa morphology, Abnormal...	ORPHA:79404
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Laron Syndrome	Limb undergrowth, Short long bone, Small face	OMIM:262500
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal hair morphology, Preaxial polydactyly, ...	ORPHA:64754
Rett Syndrome	Apnea, Intermittent hyperventilation, Abnormality of the dentition, Kyphosis, Short foot, Seconda...	OMIM:312750
Fanconi Anemia, Complementation Group D2	Anemic pallor, Aplasia of the 1st metacarpal, Micropenis, Agenesis of corpus callosum, Esophageal...	OMIM:227646
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Xeroderma Pigmentosum, Complementation Group B	Short stature, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous mel...	OMIM:610651
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Tachypnea, Cerebral atrophy, Respiratory failure, Death in childhood, Abnormal periventricular wh...	OMIM:615838
Sialidosis Type 2	Hepatomegaly, Coarse facial features, Dyspnea, Kyphosis, Splenomegaly, Hearing impairment	ORPHA:87876
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Microcephaly, Adducted thumb, Hip dislocation, Cutis laxa, Protruding ear, Talipe...	OMIM:616603
Farber Disease	Respiratory distress, Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaund...	ORPHA:333
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, A...	ORPHA:101085
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Thin upper lip vermilion, Hearing impairment, Microcephaly, Broad nasal tip, Underdeveloped nasal...	ORPHA:404473
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati...	OMIM:614887
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Thin upper lip vermilion, Villous atrophy, Cerebellar vermis hypop...	OMIM:212065
Bencze Syndrome	Open bite, Submucous cleft hard palate, Extension of hair growth on temples to lateral eyebrow, F...	ORPHA:1241
Tibial Muscular Dystrophy	Distal upper limb muscle weakness, Weakness of long finger extensor muscles, Respiratory failure	ORPHA:609
Beta-Ureidopropionase Deficiency	Bifid scrotum, Scoliosis, Anal atresia, Microcephaly	OMIM:613161
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Microcephaly, Lissencephaly, Cerebellar...	ORPHA:1528
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Absent earlobe, Kyphosis, Bil...	OMIM:619557
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Downturned corners of mouth, Clitoral hyp...	ORPHA:398069
Acromegaly	Mandibular prognathia, Synophrys, Wide penis, Widely spaced teeth, Generalized hirsutism, Long fa...	ORPHA:963
Sirenomelia	Absence of the sacrum, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, ...	ORPHA:3169
Pancreatic And Cerebellar Agenesis	Death in infancy, Agenesis of cerebellar vermis, Abnormal pinna morphology, Optic nerve hypoplasi...	OMIM:609069
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Intellectual Developmental Disorder, Autosomal Dominant 56	Thin upper lip vermilion, Sensorineural hearing impairment, Protruding ear, High palate, Secondar...	OMIM:617854
Intellectual Developmental Disorder, Autosomal Dominant 61	Thin upper lip vermilion, Prominent nasal bridge, Synophrys, Wide nasal bridge, Wide mouth, Smoot...	OMIM:618009
Xeroderma Pigmentosum, Complementation Group E	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	OMIM:278740
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Recurrent i...	ORPHA:84064
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna, Split hand, Split foot, Bicornu...	OMIM:200980
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Anteverted nares, Cerebral white matter hypoplasia, Tapered finger, Hig...	OMIM:616728
Nanophthalmos 4	Microphthalmia	OMIM:615972
46,Xy Sex Reversal 6	Dysgerminoma, Hirsutism, Gonadoblastoma, Sparse axillary hair	OMIM:613762
Currarino Syndrome	Absence of the sacrum, Anal stenosis, Hemisacrum, Septate vagina, Perianal abscess, Gastrointesti...	OMIM:176450
Silver-Russell Syndrome Due To 11P15 Microduplication	Clinodactyly of the 5th finger, Relative macrocephaly, Triangular face, Facial asymmetry	ORPHA:231144
Double Outlet Right Ventricle	Depressed nasal bridge, Intestinal malrotation, Abnormality of cartilage of external ear, Submuco...	ORPHA:3426
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly, Triangular face	OMIM:617120
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypo...	OMIM:603671
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Clubbing of fingers, Gingival bleeding, Mi...	ORPHA:335
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Distal upper limb amyotrophy, Scoliosis, Hearing impairment	ORPHA:101075
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Atresia of the external auditory canal, Hearing impairment, Bilat...	ORPHA:3023
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect, Respiratory ...	ORPHA:99931
Pyknoachondrogenesis	Craniofacial hyperostosis, Micromelia, Short iliac bones, Abnormal iliac wing morphology, Depress...	ORPHA:3003
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Apnea, Micrognathia	ORPHA:1129
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Primrose Syndrome	Cerebral calcification, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Downturne...	OMIM:259050
Dend Syndrome	Anteverted nares, Thickened ears, Downturned corners of mouth, Long philtrum, Clinodactyly of the...	ORPHA:79134
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Becker Nevus Syndrome	Hypermelanotic macule, Micromelia, Supernumerary nipple, Kyphosis, Abnormal tibia morphology, Hyp...	ORPHA:64755
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Wide nose, Anophthalmia, Anteverted nares, Microcephaly, Abnormal eyelash morpholog...	ORPHA:2526
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patell...	OMIM:617604
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal basal ganglia MRI signal intensity, Short humerus, Respiratory distress, Short femur, Hy...	ORPHA:17
Aredyld Syndrome	Short stature, Refractory anemia with ringed sideroblasts, Intrauterine growth retardation, Spars...	ORPHA:1133
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Hypoxemia	ORPHA:2140
Frontofacionasal Dysplasia	Telecanthus, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Eyelid coloboma, S-shaped palpebr...	OMIM:229400
Microphthalmia, Isolated 8	Anophthalmia, Entropion, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthal...	OMIM:615113
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A...	ORPHA:1366
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Albinism, Kyphosis, Platyspondyly, Pallor	ORPHA:2786
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Cerebral calcification, Intestinal malrotation, Abnormal...	ORPHA:3035
Mucolipidosis Iii Gamma	Coarse facial features, Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hype...	OMIM:252605
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Esophagea...	ORPHA:367
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Respiratory failure, Dysphagia	OMIM:613954
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Splenomegaly, Hyperkeratosis, Fused cervical vertebrae, Stoma...	OMIM:612852
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Thin upper lip vermilion, Broad nasal tip, Microcephaly, Aplasia/Hypoplasia of the earlobes, High...	OMIM:609037
Folinic Acid-Responsive Seizures	Frontotemporal cerebral atrophy, Sensorineural hearing impairment, Apnea, Respiratory distress	ORPHA:79097
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Ambiguous genitalia, Micromelia, Microcep...	ORPHA:2772
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Esophageal atresia, Cryptorchid...	ORPHA:77298
Fanconi Anemia, Complementation Group C	Hypopigmented macule, Anemic pallor, Hypergonadotropic hypogonadism, Absent thumb, Absent radius,...	OMIM:227645
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Vertigo, Respiratory failure, Pallo...	ORPHA:3226
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Cleft lip, Clinodacty...	ORPHA:1724
Stevens-Johnson Syndrome	Entropion, Conjunctivitis, Acantholysis	ORPHA:36426
Keutel Syndrome	Sinusitis, Cerebral calcification, Cartilaginous ossification of nose, Deep philtrum, Emphysema, ...	OMIM:245150
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Triangular face,...	ORPHA:96181
Occipital Horn Syndrome	Short humerus, Narrow face, Redundant skin, Pelvic bone exostoses, Hiatus hernia, Coxa valga, Cap...	OMIM:304150
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Respiratory insuffici...	OMIM:181405
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Jaundice, Biliary cirrhosis, Hepatitis, Abn...	ORPHA:186
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Anteverted nares, Kyphosis, Melanocytic nevus, Midline defect of the nose, Sco...	ORPHA:1969
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment...	OMIM:251800
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit...	ORPHA:2378
Charcot-Marie-Tooth Disease Type 4C	Neuropathic spinal arthropathy, Hypoventilation, Tongue atrophy, Sensorineural hearing impairment...	ORPHA:99949
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Diamond-Blackfan Anemia 8	Short nose, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Congenital Erythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Squamous cell carcinoma, Neoplasm of the skin, Fac...	ORPHA:79277
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease...	ORPHA:634
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Macrocephaly	OMIM:618240
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Death in infancy, Depressed nasal bridge, Epiphyseal stippling, Respiratory failure	OMIM:614862
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Neonatal respiratory distress, Single transverse palmar crease, High palate, Microp...	OMIM:619053
Myofibrillar Myopathy 10	Mandibular prognathia, Sandal gap, Kyphosis, Elbow flexion contracture, Flexion contracture of fi...	OMIM:619040
Velocardiofacial Syndrome	Abnormality of the hand, Microcephaly, Underdeveloped nasal alae, Cryptorchidism, Velopharyngeal ...	OMIM:192430
Cushing Disease	Sparse scalp hair, Intra-oral hyperpigmentation, Hirsutism, Skin ulcer, Moon facies, Thin skin, E...	ORPHA:96253
Mosaic Monosomy X	Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i...	ORPHA:99228
Monosomy X	Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i...	ORPHA:99226
Turner Syndrome	Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i...	ORPHA:99413
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Microcephaly, Ky...	OMIM:615084
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Immotile cilia, Otitis media, C...	OMIM:606763
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Cessation of head growth, Mil...	ORPHA:411511
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon	OMIM:611038
Lamellar Ichthyosis	Sparse hair, Short stature, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir...	ORPHA:562639
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Synophrys, Dental crowding, Triangular face, Hirsutism	OMIM:619264
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Death in infancy, Microcephaly, Respiratory failure, Polymicrogyria	OMIM:610678
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Displacement of the urethral m...	ORPHA:1556
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Alopecia, Neuronal loss in basal ganglia, Sensorineu...	ORPHA:506
Mevalonic Aciduria	Low-set, posteriorly rotated ears, Microcephaly, Splenomegaly, Cerebral cortical atrophy, Triangu...	ORPHA:29
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Wide nose, Coarse facial features, Hypogonadotropic hypogonadis...	ORPHA:314769
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn...	ORPHA:93322
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory...	OMIM:265120
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Narrow palpebral fissure, Long philtrum, Microphthalmia, Iris coloboma, Ptosis	OMIM:615145
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Microcephaly, Sensorineural hearing impairment, Hypogonadism,...	ORPHA:254913
Lymphedema-Distichiasis Syndrome	Micrognathia, Yellow nails, Cleft upper lip, Kyphosis, Cleft palate, Chylothorax, Webbed neck, Mi...	OMIM:153400
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Cerebral white matter atrophy, Microcephaly, Cryptorchidism, Kyphosis, Ast...	ORPHA:500055
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Cessation of head growth, Wid...	ORPHA:98795
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair, Moderate postnatal growth retardation	OMIM:118650
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Coccidioidomycosis	Urticarial plaque, Respiratory distress, Broad skull, Abnormality of the spleen, Verrucous papule...	ORPHA:228123
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Malabsorption, Erythema, Abnormality of the tongue, Skin u...	ORPHA:37
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure, Progressive hearing impairment, Dysphagia	OMIM:620166
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Oval face, Flat a...	ORPHA:3168
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Preauricular pit, Posteriorly rotated ears, Micrognathia, Congenital senso...	OMIM:617306
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Lassa Fever	Increased circulating IgM level, Jaundice, Sepsis	ORPHA:99824
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Hepatomegaly, Depressed nasal bridge, Choanal atresia, Thoracolumbar sc...	OMIM:610199
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased palmar creases, Triphalangeal thumb, Aplasia of the ovary, Aplasia/...	ORPHA:2232
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Central hypoventilation, Leukoencephalopathy, Respiratory failure, Dysphagia	OMIM:618233
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Thin upper lip vermilion, Cerebellar vermis hypoplasia, 2-3 toe cutaneous syndactyly, High palate...	OMIM:620242
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Hepatomegaly, Cryptorchidism, Secondary microcephaly, Cerebellar hypoplasia, Ne...	OMIM:613730
Wrinkly Skin Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Excessive skin wrinkling on dorsum of h...	ORPHA:2834
Limb Body Wall Complex	Abnormality of the liver, Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the h...	ORPHA:2369
Simple Cryoglobulinemia	Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia...	ORPHA:91139
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Hepatomegaly, Hypospadias, Apnea, Microcephaly, Splenomegaly, Sensorineural hea...	OMIM:252010
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline, Short stature	ORPHA:284180
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters	OMIM:132000
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Recurrent infections, ...	ORPHA:33226
Angelman Syndrome	Mandibular prognathia, Abnormality of the gastrointestinal tract, Precocious puberty in females, ...	ORPHA:72
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Recurrent infections, Hepatic steatosis, Decreas...	OMIM:613327
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Rhinorrhea, Erythematous oral mucosa, Recurrent pneumonia, Furrowed tongue, ...	OMIM:158310
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor...	ORPHA:321
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ...	OMIM:164900
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven...	OMIM:310200
Duplication Of The Pituitary Gland	Abnormality of the cervical spine, Thoracic scoliosis, Abnormal odontoid process morphology, Micr...	ORPHA:314621
Adams-Oliver Syndrome 1	Aplasia cutis congenita on trunk or limbs, Toe syndactyly, Alopecia, Supernumerary nipple, Cleft ...	OMIM:100300
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Telecanthus, Sparse scalp hair, Proximal placement of thumb, Sparse eyeb...	OMIM:615789
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Redundant neck skin, Supernumerary nipple, Microcephaly, Cryptorchidism, Po...	ORPHA:2519
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Neoplasm of the liver, Intest...	ORPHA:424019
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Synophrys, Widely spaced teeth, Clinodactyly of the 5th finger, Hypospadias, Anteverted nares, Ta...	ORPHA:477993
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Microcephaly, Pulmonary embolism, Jaundice, Cerebral atrophy, Leukoencephal...	ORPHA:79282
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Pallor, Cough, Papule, Clubbing, ...	ORPHA:3260
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening	OMIM:241310
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Respiratory failure, Shoulder girdle muscle weakness, N...	OMIM:603689
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Microcephaly	OMIM:278780
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Macroglossia,...	ORPHA:2221
Bifid Nose With Or Without Anorectal And Renal Anomalies	Short lingual frenulum, Posteriorly rotated ears, Precocious puberty, Bulbous nose, Anteriorly pl...	OMIM:608980
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon...	OMIM:620189
Molybdenum Cofactor Deficiency, Complementation Group B	Long face, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Thick vermilion border, Hypo...	OMIM:252160
Giant Cell Arteritis	Alopecia, Epistaxis, Recurrent pharyngitis, Vertigo, Skin ulcer, Gastrointestinal infarctions, Co...	ORPHA:397
Aica-Ribosuria Due To Atic Deficiency	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Fused labia minora, Wide mout...	OMIM:608688
Blepharophimosis, Ptosis, And Epicanthus Inversus	Depressed nasal bridge, Highly arched eyebrow, Sparse pubic hair, Cupped ear, Wide nasal bridge, ...	OMIM:110100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Squamous cell carcinoma, Growth delay, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, ...	ORPHA:79408
Rift Valley Fever	Thrombocytopenia, Jaundice, Severe viral infection, Hepatitis, Increased circulating IgG level, I...	ORPHA:319251
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Short stature, Fragile nails	OMIM:242150
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, ...	ORPHA:556955
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Spotty hypopigmentation, Gingivitis,...	OMIM:173650
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Leukoencephalopathy, Respiratory failure, Neonatal d...	OMIM:605711
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Partington Syndrome	Triangular face, Camptodactyly	OMIM:309510
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Epicanthus, Congenital hip dislocation, Absent nipple, Umbilical hernia, High palate,...	OMIM:104350
Timothy Syndrome	Thin upper lip vermilion, Round face, Depressed nasal bridge, Pneumonia, Cutaneous syndactyly, Mi...	OMIM:601005
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio...	ORPHA:1493
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgA level	ORPHA:369837
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Short stature	OMIM:268020
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short stature, Sparse body hair	ORPHA:2234
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Wide nose, Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal repro...	ORPHA:1521
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Abnormality of the cervical spin...	ORPHA:249
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Narrow face, Microcephaly, Cupped ear, Protruding ear, Macroglossia, Nail...	ORPHA:93947
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Aplasia cutis congenita on trunk or limbs, Alopecia, Oral mucosal blisters, Erythema, Atrophic sc...	ORPHA:79396
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Spinocerebellar Ataxia Type 1	Respiratory failure, Dysphagia	ORPHA:98755
Penile Agenesis	Depressed nasal bridge, Posteriorly rotated ears, Rectal fistula, Cryptorchidism, Anorectal anoma...	ORPHA:49
Choanal Atresia	Respiratory distress, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic sinusitis, A...	ORPHA:137914
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Sparse scalp hair, Pancreatic adenocarcinoma, Neoplasm o...	ORPHA:99889
Congenital Disorder Of Glycosylation, Type Iiw	Narrow face, Micrognathia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Elevated cir...	OMIM:619525
Noonan Syndrome With Multiple Lentigines	Low-set, posteriorly rotated ears, Scapular winging, Hypospadias, Cryptorchidism, Sensorineural h...	ORPHA:500
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Tukel Syndrome	Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap...	OMIM:609428
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology	ORPHA:803
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy	ORPHA:100976
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose	ORPHA:2835
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Esoph...	ORPHA:95430
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Cerebral white matter atrophy, Dry hair, Narrow nose...	ORPHA:90324
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Finger joint hypermobility, Uterine rupture, Ecchymosis, Emphysema, Premature loss...	OMIM:130050
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair, Cerebral cavernous malformation	OMIM:619910
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at...	OMIM:615709
Cockayne Syndrome	Dry hair, Cerebral calcification, Basal ganglia calcification, Gastroesophageal reflux, Hepatomeg...	ORPHA:191
Mevalonic Aciduria	Elevated hepatic transaminase, Agenesis of cerebellar vermis, Posteriorly rotated ears, Kyphoscol...	OMIM:610377
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Autosomal Recessive Spastic Paraplegia Type 20	Abnormality of the hand, Microcephaly, Abnormal thumb morphology, Abnormal hand morphology, Promi...	ORPHA:101000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointest...	ORPHA:95455
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Kyphoscoliosis, Respiratory failure, Hepatic fibrosi...	ORPHA:14
Oliver Syndrome	Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand polydactyly, Dental malo...	ORPHA:2920
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Microcephaly, Sensorineural hearing impairment, Submucous cleft hard palat...	OMIM:617660
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Hepatomegaly, Abnormal eosinophil morphology, Cholangioca...	ORPHA:171
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Pallor, Narro...	ORPHA:54028
Marinesco-Sjogren Syndrome	Short metacarpal, Hypergonadotropic hypogonadism, Microcephaly, Coxa valga, Kyphosis, Short metat...	OMIM:248800
Marfan Syndrome	Narrow face, Dental crowding, Arachnodactyly, Limited elbow movement, Protrusio acetabuli, Open b...	ORPHA:558
Neurodegeneration With Brain Iron Accumulation 2A	Hearing impairment, Short nose, Cerebral atrophy, Micrognathia	OMIM:256600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebral white matter atrophy, Leukoencephalopathy, Bradypnea, Respiratory failure, Death in chil...	OMIM:617186
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Brachydactyly, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Abnormal femoral...	ORPHA:3218
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Choanal stenosis, Scaling skin, Atrichia, Death in childhood, Neonatal death, Dystrophic fingerna...	OMIM:308205
Pmm2-Cdg	Mandibular prognathia, Respiratory distress, Cerebellar vermis hypoplasia, Prominent nose, Hyperp...	ORPHA:79318
Mpdu1-Cdg	Absence of acoustic reflex, Prominent frontal sinuses, Erythematous plaque, Thin vermilion border...	ORPHA:79323
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Dry skin, Lack of skin elasticity, Palmoplantar keratoderma	ORPHA:384
Mowat-Wilson Syndrome	Bifid scrotum, Uplifted earlobe, Large basal ganglia, Widely spaced teeth, Agenesis of corpus cal...	OMIM:235730
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Femoral bowing, Anteriorly place...	OMIM:201750
Myotonic Dystrophy 1	Respiratory distress, Frontal balding, Cerebral atrophy, Hypogonadism, Dysphagia, Cholelithiasis,...	OMIM:160900
Silver-Russell Syndrome 4	Triangular face, Mild microcephaly	OMIM:618907
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Low anterior h...	OMIM:619909
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Protruding tongue, Gingival overgrowth, Secondary microceph...	OMIM:620352
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp...	ORPHA:392
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Hypergonadotropi...	OMIM:203800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ...	OMIM:251270
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Prominent nasal bridge, Tapered finger, Microcephaly, Cryptorchidism, Short toe, Kyp...	ORPHA:464311
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Coarse facial features, Anteverted nares, Uplifted earlobe, Micrognathi...	OMIM:618548
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Decreased proportion of CD4-positive helper T cells,...	ORPHA:289390
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Crypto...	OMIM:236700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Acute hepatic failure, Autoamputation of digits, Hepatomegaly, Elevated cir...	OMIM:256810
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Silver-Russell Syndrome 5	Relative macrocephaly, Triangular face	OMIM:618908
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, D...	ORPHA:100050
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis, Hearing impairment	ORPHA:101078
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Posteriorly rotated ears, Tapered finger, Broad nasal tip, Cyst of the d...	OMIM:619480
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Gastric ulcer, Short phalanx of finger, Dysplasia of second lumbar vertebra	OMIM:208060
Williams-Beuren Syndrome	Rectal prolapse, Premature graying of hair, Gastroesophageal reflux, Clinodactyly of the 5th fing...	OMIM:194050
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Aspartylglucosaminuria	Hepatomegaly, Coarse facial features, Anteverted nares, Depressed nasal bridge, Microcephaly, Kyp...	OMIM:208400
Cadds	Elevated hepatic transaminase, Cholangitis, Micrognathia, Sensorineural hearing impairment, Chole...	ORPHA:369942
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Malabsorption, Dyspnea, Exocrine pancreatic insufficiency, 2-3 toe syndactyly, Cirrhosis, Narrow ...	OMIM:616539
Stt3B-Cdg	Respiratory distress, Small scrotum, Microcephaly, Cryptorchidism, Micropenis	ORPHA:370924
Lumbar Syndrome	Skin tags, Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ec...	ORPHA:83628
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:212140
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Elevated hepatic transaminase, Epistaxis, Epiphyseal stippling, Ecchymosis, Short nose, Short dis...	OMIM:277450
Wars2-Related Combined Oxidative Phosphorylation Defect	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Wide nasal bridge, Cerebral atrophy, Leuk...	ORPHA:572798
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Narrow mouth, Mi...	OMIM:614833
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Thin upper lip vermilion, Hepatic steatosis, Ulnar deviation of the 3rd finger, Hepatomegaly, Pan...	OMIM:616263
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Male hypogo...	ORPHA:273
Alagille Syndrome 1	Elevated hepatic transaminase, Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Exocrin...	OMIM:118450
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom...	ORPHA:1304
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Microcephaly	ORPHA:927
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Short stature, Hyperconvex nail	OMIM:619721
Autosomal Dominant Cutis Laxa	Redundant neck skin, Redundant skin, Microcephaly, Adducted thumb, Hip dislocation, Emphysema, Br...	ORPHA:90348
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Episodic tachypnea, Pneumonia,...	ORPHA:26793
Classic Homocystinuria	Gastrointestinal hemorrhage, Sparse scalp hair, Hepatomegaly, Elevated hepatic transaminase, Arac...	ORPHA:394
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Dyskeratosis Congenita, Autosomal Recessive 1	Esophageal stricture, Oral leukoplakia, Palmoplantar hyperkeratosis	OMIM:224230
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Sensorineural hearing impairment, Respiratory insufficiency, Respi...	OMIM:618329
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, P...	ORPHA:60025
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Hypoplasia of proximal radius, Mesomelia, Meta...	ORPHA:85170
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Underdeveloped antitragus, Abnormality of the dentition, Abnormal anti...	ORPHA:2036
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Intrauterine growth retardation	OMIM:618253
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Atresia of the external auditory canal, Talipes equinovarus	OMIM:209770
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Renal Agenesis	Absent vas deferens, Potter facies, Talipes equinovarus, Anal atresia, Aplasia/hypoplasia of the ...	ORPHA:411709
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve h...	OMIM:206900
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Pneumothorax, Abnormal basal ganglia morphology, Cerebral atrophy,...	ORPHA:445038
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Megalencephaly, Abnormally large globe, Kyphosis, Thic...	OMIM:603387
Fanconi Anemia, Complementation Group Q	Microcephaly, Absent thumb, Esophageal atresia, Biliary atresia, Anteriorly placed anus, Low-set ...	OMIM:615272
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Tongue atrophy, Flexion contracture of finger, Hand musc...	ORPHA:466768
Mitochondrial Trifunctional Protein Deficiency	Equinus calcaneus, Cholestasis, Respiratory insufficiency, Respiratory failure, Diffuse hepatic s...	ORPHA:746
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Sparse scalp hair, Round face, Neonatal respiratory distress, Sparse eyelas...	OMIM:614748
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hepatomegaly	OMIM:618234
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Dyskeratosis Congenita, Autosomal Dominant 2	Esophageal stricture, Oral leukoplakia, Palmoplantar hyperkeratosis	OMIM:613989
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate, Hemifacial hypertrophy	OMIM:141350
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis	ORPHA:70578
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Hepatomegaly, Neurofibrillary tangles, Splenomeg...	OMIM:607625
Oculotrichoanal Syndrome	Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microp...	ORPHA:2717
Anorectal Anomalies	Rectovaginal fistula, Anal atresia	OMIM:107100
Tetanus	Respiratory distress, Trismus, Localized skin lesion, Tachypnea, Dysphagia	ORPHA:3299
Tick-Borne Encephalitis	Meningitis, Leukocytosis, Unusual CNS infection, Increased circulating IgG level, Increased circu...	ORPHA:297
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpu...	OMIM:619517
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Microcephaly, Protruding tongue, Hand clenching, Thin corpus callosum, Hearing impairment	OMIM:619580
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,...	ORPHA:1010
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Short stature, Thick eyebrow	ORPHA:127
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Pancreatitis, Splenomegaly	ORPHA:79312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Buphthalmos, Respiratory failure, Hypoplasi...	OMIM:616538
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Cerebral atrophy, Scoliosis, Hypoplasia of the corpus callosum, Hearing impairment	OMIM:614409
Alexander Disease	Large face, Cerebral calcification, Megalencephaly, Precocious puberty, Short neck, Hyperlordosis...	ORPHA:58
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Ridged finger...	OMIM:268130
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre...	OMIM:613070
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Short stature	ORPHA:220295
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Hyperlordosis, High, narrow palate, Kyphosis, Thick l...	OMIM:162300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Coxa vara, Irregul...	OMIM:313400
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Wide mouth, Gastroesophageal reflux, Scoliosis, Hyperventilation	OMIM:614325
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Thin upper lip vermilion, Microcephaly, Wide nasal bridge, Long ear, Macro...	OMIM:619714
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Apnea, Choanal atresia, Microcephaly, Micrognathia, Protruding tong...	ORPHA:98889
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Hypoplasia of the ear cartilage	ORPHA:66661
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central apnea, Thin upper lip vermilion, Hypopigmentation of hair, Small scrotum, Hypogonadotropi...	ORPHA:177901
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Recurrent pneumonia, Oral ulcer...	OMIM:618935
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Dermal atrophy, Skin...	ORPHA:257
Intellectual Disability-Developmental Delay-Contractures Syndrome	Clinodactyly of the 5th finger, Kyphosis, Scoliosis	ORPHA:3454
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Postaxial hand polydactyly, Downslanted palpebr...	ORPHA:110
Duplication Of Urethra	Bifid scrotum, Clitoral hypertrophy, Hypospadias, Septate vagina, Rectourethral fistula, Epispadi...	ORPHA:237
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Cryptorchidism, High palate...	OMIM:609942
Aural Atresia, Congenital	Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Stridor, Paroxysmal dyspnea, Respiratory failure	ORPHA:444013
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Scolios...	OMIM:609008
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Lysinuric Protein Intolerance	Hepatomegaly, Thrombocytopenia, Decreased circulating antibody level, Hepatosplenomegaly, Abnorma...	ORPHA:470
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair	OMIM:607626
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Micrognathia	OMIM:607598
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Round face, Femoral retroversion, Kyphosis, Tibial bowing, Femor...	OMIM:610915
Sepsis In Premature Infants	Hepatomegaly, Abnormal mucociliary clearance, Dyspnea, Gastrointestinal dysmotility, Nasal flarin...	ORPHA:90051
Fanconi Anemia, Complementation Group E	Anemic pallor, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Microcep...	OMIM:600901
Agel Amyloidosis	Tongue atrophy, Xerostomia, Cutis laxa, Abnormal spleen morphology, Nail dystrophy, Sparse hair, ...	ORPHA:85448
Paget Disease Of Bone 5, Juvenile-Onset	Relative macrocephaly, Short humerus, Bowing of the long bones, Kyphosis, Sensorineural hearing i...	OMIM:239000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Elevated hepatic transaminase, Alopecia, Psoriasiform dermatitis, Gastritis...	ORPHA:37042
Dyskeratosis Congenita, Autosomal Dominant 3	Avascular necrosis of the capital femoral epiphysis, Decreased DLCO, Dry skin, Oral leukoplakia	OMIM:613990
Adams-Oliver Syndrome 5	Syndactyly, Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix, Pulmonary arte...	OMIM:616028
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Ramon Syndrome	Delayed eruption of teeth, Enlarged labia minora, Hearing impairment, Kyphosis, Gingival fibromat...	OMIM:266270
Hartnup Disease	Glossitis, Hypopigmented skin patches, Gingivitis, Malabsorption	ORPHA:2116
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:615595
Microtia	Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ...	ORPHA:83463
Molybdenum Cofactor Deficiency, Complementation Group A	Long face, Microcephaly, Cerebral atrophy, Thick vermilion border, Hypoplasia of the corpus callo...	OMIM:252150
Fanconi Anemia, Complementation Group A	Anemic pallor, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Microcep...	OMIM:227650
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, E...	ORPHA:2211
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Perianal abs...	OMIM:301074
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Joubert Syndrome 33	Syndactyly	OMIM:617767
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Respiratory failure, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia...	OMIM:620327
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Cerebral calcification, Microcephaly, Premature graying of hair, Excessive wri...	ORPHA:3322
Postencephalitic Parkinsonism	Camptocormia, Abnormal substantia nigra morphology, Cough, Kyphosis, Abnormal respiratory system ...	ORPHA:97349
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Microcephaly, Kyphosis, Cerebral atrophy, Hypoplasia of the corpus callosum, Dysphagia, Hyperinte...	ORPHA:500180
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Hypospadias, Microcephaly, Submucous cleft hard palate, Cerebral atrophy, Fine hair...	OMIM:618891
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Sensorineural hearing impairment, Jaundice, Cerebral atrophy, Hypopnea, ...	OMIM:617248
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Bruck Syndrome 1	Hip contracture, Protrusio acetabuli, Kyphosis, Elbow flexion contracture, Coxa vara, Vertebral w...	OMIM:259450
Spinocerebellar Ataxia Type 36	Tongue atrophy, Vertigo, Tongue fasciculations, Dysphagia, Hearing impairment	ORPHA:276198
Osteogenesis Imperfecta, Type Vii	Death in infancy, Crumpled long bones, Round face, Rhizomelia, Protrusio acetabuli, Micromelia, B...	OMIM:610682
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Depressed nasal bridge, High, narrow palate, Sensorineural hearing impairment, Hematochezia, Shor...	OMIM:619575
Dyskeratosis, Hereditary Benign Intraepithelial	Oral leukoplakia	OMIM:127600
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Wide nasal bridge, Respirat...	OMIM:601186
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Micrognathia, Biliary hyperplasia, Protein-losing enteropathy, Cough...	OMIM:619991
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Microphthalmia, Su...	OMIM:157170
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Eyelid coloboma, Hand polydactyly, Tali...	OMIM:217100
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion	ORPHA:542323
Norrie Disease	Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Microcephaly, Cryptorchidism, Sensorineural ...	ORPHA:649
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Wrist flexion c...	OMIM:618733
Craniorachischisis	Bifid sternum, Anencephaly, Anal atresia, Sirenomelia	ORPHA:63260
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis, Hearing impairment	OMIM:610743
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Dysphagia, Hearing impairment	OMIM:614153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Leukoencephalopathy, Hypoplasia of the brainstem,...	OMIM:615181
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Relative macrocephaly, Natal tooth, Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceou...	OMIM:601345
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Localized skin lesion, Tachypnea, Peritonitis, Hepati...	ORPHA:36234
Listeriosis	Back pain, Respiratory distress, Liver abscess, Miscarriage, Pneumonia, Jaundice, Peritonitis, In...	ORPHA:533
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Igg4-Related Pachymeningitis	Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatitis	ORPHA:449427
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha...	OMIM:248450
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Mercury Poisoning	Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In...	ORPHA:330021
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Respiratory distress, Exaggerated cupid's bow, Apnea, ...	ORPHA:2131
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Wide mouth, Long ear, Macrocephaly, Short nose	ORPHA:293948
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Carney Complex	Neoplasm of the stomach, Atypical nevi in non-sun exposed areas, Moon facies, Leydig cell neoplas...	ORPHA:1359
Aica-Ribosiduria	Thin upper lip vermilion, Clitoral hypertrophy, Wide mouth, Low-set ears, Fused labia minora	ORPHA:250977
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Yellow papule, High, narrow palate, Kyphosis, High palate, Scoliosis...	OMIM:177850
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Neurooculorenal Syndrome	Mixed hearing impairment, Cerebellar vermis hypoplasia, Intestinal malrotation, Short hallux, Mic...	OMIM:620305
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spl...	ORPHA:2470
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Cho...	OMIM:609015
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Cerebellar hypoplasia,...	OMIM:618805
Alström Syndrome	Respiratory distress, Abnormality of dental color, Thoracic scoliosis, Hypoplasia of the Leydig c...	ORPHA:64
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Upper limb hypertonia, Hypertrichosis	OMIM:614898
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Cheilitis, Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy	ORPHA:163525
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Elevated hepatic transaminase, Epistaxis, Pneumonia, Hematemesis...	ORPHA:340
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Glandular hypospadias, Cerebral atrophy, Talipes...	OMIM:620306
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis, Hearing impairment	ORPHA:99014
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas, Cerebellar hypoplasia, Low-set ears, ...	ORPHA:65288
Poliomyelitis	Paralytic ileus, Respiratory failure requiring assisted ventilation, Respiratory failure, Dysphagia	ORPHA:2912
Mesomelic Dysplasia, Savarirayan Type	Mesomelia, Short tibia, Dislocated radial head, Fibular aplasia	OMIM:605274
White Sponge Nevus 1	Oral leukoplakia	OMIM:193900
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Plague	Respiratory distress, Chapped lip, Hepatomegaly, Hematemesis, Splenomegaly, Localized skin lesion...	ORPHA:707
Pelizaeus-Merzbacher Disease	Microcephaly, Kyphosis, Respiratory insufficiency, Scoliosis, Cerebral cortical atrophy, Hearing ...	ORPHA:702
Lujo Hemorrhagic Fever	Respiratory distress, Elevated hepatic transaminase, Crackles, Nonproductive cough, Odynophagia, ...	ORPHA:319213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Agyria, Hypoplasia of the pyramidal tract, Spinal rigidity, Respiratory insufficiency, Hypoplasia...	OMIM:253800
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level	OMIM:212750
Methylmalonic Acidemia With Homocystinuria Type Cblf	Cleft palate, Reduced number of intrahepatic bile ducts, Stomatitis, Abnormal facial shape, Gloss...	ORPHA:79284
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Hepatomegaly, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chol...	OMIM:620233
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Short stature, Nail dystrophy, Small nail, Sparse hair, Intrauterine grow...	OMIM:617052
Pancreatic insufficiency, combined exocrine	Anal atresia, Exocrine pancreatic insufficiency	OMIM:260450
Japanese Encephalitis	Neutrophilia, Meningitis, Increased circulating IgM level, Increased circulating antibody level, ...	ORPHA:79139
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Elbow flexion contracture, Kyphosis, Abnormal cerebral w...	OMIM:618138
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo...	OMIM:610755
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Epiphyseal dysplasia, Hypospadias, Metatarsus adductus, Conductive hear...	OMIM:611962
Dyskeratosis Congenita, Autosomal Recessive 3	Oral leukoplakia, Squamous cell carcinoma of the tongue	OMIM:613988
Relapsing Polychondritis	Macule, Alopecia, Chondritis of pinna, Dyspnea, Sensorineural hearing impairment, Erythema, Verti...	ORPHA:728
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Squamous cell carcinoma of the skin, Long eyelashes, Basal cell carcinoma	ORPHA:79430
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal...	ORPHA:449395
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abnormal tongue morpholo...	ORPHA:653
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Short neck, Hyperlordosis, ...	ORPHA:98863
Xeroderma Pigmentosum, Complementation Group A	Melanoma, Squamous cell carcinoma of the skin	OMIM:278700
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, Highly arched eyeb...	OMIM:220111
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia, Respiratory ...	ORPHA:3240
Cranioectodermal Dysplasia 3	Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Sparse hair	OMIM:614099
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Solitary Rectal Ulcer Syndrome	Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer	ORPHA:209964
Microphthalmia-Brain Atrophy Syndrome	Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly	ORPHA:77299
Macs Syndrome	Sparse hair, Alopecia, Short stature, Sparse eyebrow	OMIM:613075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Short nasal bridge, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Buphth...	OMIM:253280
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Ankyloblepharon, Popliteal pter...	OMIM:119500
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Diastema, Agenesis of molar, Supernumerary tooth, Cry...	OMIM:619718
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Wide mouth, Hand polydactyly, Foot polydactyly	ORPHA:60040
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Epicanthus, Thick lower lip vermilion, Broad ischia, Phthisis bulbi, Diaph...	OMIM:619727
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birth...	OMIM:166220
17Q11 Microdeletion Syndrome	Bowing of the legs, Abnormal facial shape, Papule, Depressed nasal bridge, Hypermelanotic macule,...	ORPHA:97685
Histiocytoid Cardiomyopathy	Hepatomegaly, Tachypnea, Cleft palate, Polycystic ovaries, Pallor, Cough, Microphthalmia, Agenesi...	ORPHA:137675
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Short stature, Sparse body hair	ORPHA:3068
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Lymp...	ORPHA:79078
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Decreased circulating antibody level, He...	ORPHA:247598
Renal And Mullerian Duct Hypoplasia	Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Shor...	OMIM:266810
Hawkinsinuria	Sparse hair	OMIM:140350
Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid...	ORPHA:98853
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Postaxial polydactyly, High, narrow palate, Postaxial hand polydacty...	OMIM:209900
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Encephalocraniocutaneous Lipomatosis	Alopecia, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia	OMIM:613001
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Wrist swelling, Cryptorchidism, Kyphosis, Subcutaneous nodule, Hip dislo...	OMIM:309000
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Elevated circulatin...	OMIM:619573
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Microphthalmia, Micropenis	OMIM:610125
Linear Nevus Sebaceus Syndrome	Alopecia, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, ...	ORPHA:2612
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Abnormal globus pallidus morphology, Pancreatitis, Hepatomegaly	OMIM:251000
Neonatal Inflammatory Skin And Bowel Disease	Chapped lip, Psoriasiform dermatitis, Anal fissure, Erythema, Perianal dermatitis, Otitis externa...	ORPHA:294023
Pelizaeus-Merzbacher Disease, Connatal Form	Cerebellar hypoplasia, Respiratory failure, Confluent hyperintensity of cerebral white matter on ...	ORPHA:280210
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki...	OMIM:256040
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion	OMIM:278730
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Microcephaly, Bilateral cryptorchidism, Basal ganglia calci...	OMIM:278800
Diets-Jongmans Syndrome	Thin upper lip vermilion, Hypospadias, Hearing impairment, Broad nasal tip, Cryptorchidism, Low h...	OMIM:618846
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of...	OMIM:617914
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia, Scoliosis	OMIM:619352
Microsporidiosis	Sinusitis, Pneumonia, Cholangitis, Abnormality of the spleen, Skin nodule, Prostatitis, Peritonit...	ORPHA:2552
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Round face, Depressed nasal bridge, Broad nasal tip, Hydrocele testis	OMIM:601927
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis, Dysphagia	OMIM:617143
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Gaucher Disease Type 1	Hepatomegaly, Hypersplenism, Kyphosis, Splenomegaly, Gingival bleeding, Cirrhosis, Pulmonary arte...	ORPHA:77259
Alagille Syndrome 2	Long nose, Cholestatic liver disease, Triangular face, Cholestasis	OMIM:610205
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Short stature, Loose anagen hair, Long eyelashes, Sparse hair, Hem...	OMIM:607721
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Hepatomegaly, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in...	OMIM:610505
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Leukocytosis...	ORPHA:99829
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol...	OMIM:615710
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Thin upper lip vermilion, Arachnodactyly, Breast aplasia, Macrocephaly, Smooth philtrum	OMIM:612242
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Thin upper lip vermilion, Highly arched eyebrow, Respiratory insufficiency, Long philtrum, Tricho...	OMIM:619173
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Plat...	OMIM:259770
Sotos Syndrome	Narrow face, Cerebellar vermis hypoplasia, No permanent dentition, Increased head circumference, ...	ORPHA:821
Amme Complex	Thin upper lip vermilion, Depressed nasal bridge, Sandal gap, Clinodactyly of the 2nd toe, Sensor...	OMIM:300194
Scarf Syndrome	Sparse hair, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Dyskeratosis Congenita, Autosomal Dominant 6	Esophageal stenosis, Oral leukoplakia	OMIM:616553
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Triangular face, Prominent nose, Protru...	ORPHA:3464
Woodhouse-Sakati Syndrome	Alopecia, Triangular face, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypopla...	OMIM:241080
Oculoauricular Syndrome	Phthisis bulbi, Nasolacrimal duct obstruction, Macular hypoplasia, Retinal coloboma, Microphakia,...	OMIM:612109
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Retinal coloboma	ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Retinal coloboma	OMIM:601794
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha...	ORPHA:231736
Q Fever	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Pneumonia, Splenomegaly, Hepat...	ORPHA:781
Sclerosteosis 1	Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic gird...	OMIM:269500
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate, Microcephaly	OMIM:257910
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Cocaine Intoxication	Respiratory distress, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, Gastrointestinal...	ORPHA:90068
Stiff Skin Syndrome	Subcutaneous nodule, Sensorineural hearing impairment, Aplasia/Hypoplasia of the skin, Lack of sk...	ORPHA:2833
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid...	ORPHA:98855
Congenital Enterovirus Infection	Respiratory distress, Hepatitis, Cholestasis, Pleural effusion, Hepatic failure	ORPHA:292
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Increased circulating IgA level, Biliary...	ORPHA:2298
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic...	ORPHA:99827
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Sy...	ORPHA:3042
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Expanded metaca...	OMIM:182250
Exstrophy-Epispadias Complex	Bifid scrotum, Abnormality of the gastrointestinal tract, Anal stenosis, Microcephaly, Bifid uter...	ORPHA:322
Partington Syndrome	Macroorchidism, Triangular face	ORPHA:94083
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Erythematous plaque, Geographic tongue, Cheilitis	ORPHA:247353
Dyskeratosis Congenita, Autosomal Recessive 2	Oral leukoplakia	OMIM:613987
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Nail dystrophy, Small nail, Carcinoma	OMIM:610644
Nocardiosis	Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, S...	ORPHA:31204
Acute Radiation Syndrome	Vertigo, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Dermal atrophy, Scaling skin	ORPHA:454831
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Splenomeg...	OMIM:608594
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Prostatitis, Peritonitis, Cirrhosis, Cough, Pleural eff...	ORPHA:1546
Scarf Syndrome	Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline	OMIM:312830
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Microtia-Anotia	Anotia, Microtia	OMIM:600674
Tuberous Sclerosis Complex	Respiratory distress, Epidermoid cyst, Cortical dysplasia, Respiratory failure, Confetti-like hyp...	ORPHA:805
Niemann-Pick Disease Type C	Hepatomegaly, Splenomegaly, Jaundice, Cerebral atrophy, Respiratory insufficiency, Hepatosplenome...	ORPHA:646
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Epidermal nevus, Depressed nasal bridge, Supernumerary nipple, ...	OMIM:600268
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Umbilical hernia, High palate	OMIM:614520
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri...	ORPHA:93325
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Imerslund-Gräsbeck Syndrome	Glossitis, Pallor, Angular cheilitis	ORPHA:35858
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Splenomeg...	OMIM:269700
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lacrimal duct atresia, Delayed eruption of primary teeth	OMIM:300952
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Gastrointestinal dysmotility, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly	ORPHA:2169
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ...	ORPHA:449563
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:212550
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Single transverse palmar crease, Sensorineural hearing impairment, Decreased liver ...	OMIM:614863
Neurofibromatosis Type 1	Macule, Abnormal hair quantity, Hearing impairment, Precocious puberty, Cryptorchidism, Kyphosis,...	ORPHA:636
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Coarse facial features, Widely spaced teeth	OMIM:300942
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Triangular face, Long nose	ORPHA:85327
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Coloboma, High palate, Syndactyly, Broad hallux, Highly arched eyebrow, Supernum...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Coloboma, High palate, Syndactyly, Broad hallux, Highly arched eyebrow, Supernum...	ORPHA:353277
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp...	ORPHA:2334
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Fine hair, Sparse ...	ORPHA:444072
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Necr...	ORPHA:97280
Hartsfield Syndrome	Syndactyly, Epicanthus, Median cleft lip, Cleft upper lip, Cleft palate, Ectrodactyly	OMIM:615465
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Tachypnea, Hypoxemia, Respirato...	ORPHA:555874
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Alopecia of scalp	ORPHA:436252
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Diarrhea 10, Protein-Losing Enteropathy Type	Recurrent upper respiratory tract infections, Decreased circulating antibody level	OMIM:618183
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse eyebrow, Cavernous hemangioma, Growth delay, Severe postnatal growth retarda...	OMIM:252500
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Papillorenal Syndrome	Microphthalmia, Optic disc coloboma, Orbital cyst, Retinal coloboma	OMIM:120330
Biotinidase Deficiency	Respiratory distress, Alopecia, Apnea, Hyperventilation, Sensorineural hearing impairment, Hearin...	ORPHA:79241
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Kawasaki Disease	Abnormality of nail color, Recurrent pharyngitis, Jaundice, Cheilitis, Hepatitis, Cholecystitis, ...	ORPHA:2331
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Holoprosencephaly 1	Proboscis, Microcephaly, Cerebellar hypoplasia, Aplasia of the nose, Microphthalmia, Micropenis, ...	OMIM:236100
Menkes Disease	Hypopigmentation of hair, Sparse hair, Woolly hair, Intrauterine growth retardation, Exostoses	ORPHA:565
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Growth delay, Short stature, Thin nail	OMIM:617799
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Macroglossia, Pleural effusion, Apnea	OMIM:261740
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Anterior Segment Dysgenesis 2	Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia	OMIM:610256
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma	OMIM:269400
Familial Exudative Vitreoretinopathy	Microphthalmia, Hearing impairment, Microcephaly	ORPHA:891
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ...	ORPHA:79138
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Unilateral microphthalmos, Macrocephaly	OMIM:615085
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Ethylene Glycol Poisoning	Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral edema	ORPHA:31826
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Elevated hepatic transaminase, Microvesicular hepatic ste...	OMIM:617156
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Dy...	ORPHA:255210
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Breast hypoplasia, Delayed puberty	ORPHA:432
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Generalized Arterial Calcification Of Infancy	Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Cerebral calcification, Calcifi...	ORPHA:51608
Fraser Syndrome 3	Short toe, Cryptophthalmos, Cutaneous syndactyly	OMIM:617667
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Ne...	ORPHA:424016
Dermatomyositis	Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Gastrointestinal stroma tumor, Erythema, ...	ORPHA:221
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly ...	OMIM:620025
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Hepatomegaly	OMIM:251100
Junctional Epidermolysis Bullosa With Pyloric Atresia	Oral mucosal blisters, Congenital pyloric atresia, Nail dystrophy, Aplasia cutis congenita, Ename...	ORPHA:79403
Spondyloarthropathy, Susceptibility To, 1	Back pain, Psoriasiform dermatitis, Kyphosis, Inflammation of the large intestine, Sacroiliac art...	OMIM:106300
Phace Association	Microphthalmia, Optic nerve hypoplasia, Horner syndrome	OMIM:606519
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Dysphagia, Scoliosis, Hyperlordosis	OMIM:128100
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intestinal malrotation, Biliary atresia, Mild microcephaly, Pancreatic apla...	ORPHA:2255
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Intrauterine growth retardation	OMIM:619934
Lysinuric Protein Intolerance	Sparse hair, Short stature, Fine hair	OMIM:222700
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema	ORPHA:33577
Autosomal Recessive Ataxia, Beauce Type	Abnormal cerebral white matter morphology, Kyphosis, Scoliosis	ORPHA:88644
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Familial Mediterranean Fever	Intestinal obstruction, Erythema, Oral leukoplakia, Malabsorption	ORPHA:342
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Small intestinal dysmotility, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory...	OMIM:619482
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Microphthalmia, Iris co...	ORPHA:42775
Scimitar Syndrome	Respiratory distress, Pneumothorax, Abnormality of the vertebral column, Cough, Pulmonary arteria...	ORPHA:185
Eisenmenger Syndrome	Respiratory distress, Hepatomegaly, Increased pulmonary vascular resistance, Wheezing, Vertigo, C...	ORPHA:97214
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Scoliosis	OMIM:609541
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Short stature, Sparse axillary hair, Sparse pubic hair, Delayed puberty, Sparse body hair	ORPHA:90796
Bladder Exstrophy And Epispadias Complex	Anteriorly placed anus, Epispadias, Abnormal pelvic girdle bone morphology, Bifid clitoris	OMIM:600057
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:221900
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal tubular epithelial necrosis, Increased circulating IgG level, Normochrom...	ORPHA:91500
Gitelman Syndrome	Respiratory distress, Neoplasm of the pancreas, Cerebral calcification, Vertigo, Tinnitus	ORPHA:358
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Cerebral atrophy, Death in childhood	OMIM:618252
Choreoacanthocytosis	Hepatomegaly, Caudate atrophy, Temporomandibular joint crepitus, Elevated circulating aspartate a...	ORPHA:2388
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Cryptorchidism, Sensorineural hearing impairment, Anteriorly placed anus, ...	OMIM:618748
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Hypoplas...	OMIM:609049
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Cleft palate, Absent dist...	OMIM:610168
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Short stature, Pilomatrixoma, Spinal cord tumor, Growth delay, Neoplasm, Meningioma	ORPHA:353281
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair	ORPHA:548
Autosomal Recessive Spastic Paraplegia Type 35	Corpus callosum atrophy, Kyphosis, Eye of the tiger anomaly of globus pallidus, Hypoplasia of the...	ORPHA:171629
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Nail dysplasia	OMIM:616682
Tetrasomy 9P	Pilomatrixoma, Intrauterine growth retardation	ORPHA:3310
Leptospirosis	Respiratory distress, Hepatomegaly, Jaundice, Hepatitis, Cough, Elevated serum transaminases duri...	ORPHA:509
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Bartter Syndrome, Type 2, Antenatal	Macrotia, Abnormally large globe, Triangular face, Macrocephaly	OMIM:241200
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Broad first metatarsal, Upslanted palpebral fissure, Coloboma,...	OMIM:619534
Bartter Syndrome Type 4	Triangular face, Bilateral sensorineural hearing impairment, Protruding ear	ORPHA:89938
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Cortical dysplasia, Porencephalic cyst, Leukoencephalopathy, Hypoplasia of the ir...	OMIM:175780

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sfn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sfn.

No publications found that use IMPC mice or data for Sfn.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Sfn^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sfn^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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