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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... OMIM:616452
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... 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 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Recurrent infections OMIM:606445
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib... OMIM:616911
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... OMIM:616941
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:607594
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne... OMIM:615401
Immunodeficiency, partial combined, with absence of hla determinantsand 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
Immunodeficiency 44
Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A... OMIM:616636
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell activity, Decre... OMIM:300400
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,... OMIM:618944
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair, Growth delay OMIM:246500
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... OMIM:617514
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... OMIM:301082
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA lev... OMIM:619281
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... ORPHA:1248
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Schopf-Schulz-Passarge Syndrome
Poroma, Apocrine hidrocystoma, Small nail, Sparse body hair, Ridged nail, Narrow nail, Nail dystr... OMIM:224750
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... OMIM:618982
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell car... ORPHA:50944
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn... OMIM:212050
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 48
Pneumocystis carinii pneumonia, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal ... OMIM:269840
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino... OMIM:609529
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Long face, Short nose, Flat face, Short toe... ORPHA:1327
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Lymphopenia, Hepatos... ORPHA:331206
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... ORPHA:98813
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr... OMIM:614069
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an... OMIM:619220
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... OMIM:615206
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Chromosome 3Pter-P25 Deletion Syndrome
Low-set ears, Hearing impairment, Overlapping toe, Micrognathia, Cryptorchidism, Anal atresia, Hi... OMIM:613792
Rhizomelic Chondrodysplasia Punctata, Type 1
Cerebral cortical atrophy, Rhizomelia, Depressed nasal bridge, Flat face, Alopecia, Flared metaph... OMIM:215100
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Depressed nasal ridge, Retrognathia, Respiratory distress, Anteverted nares, Gingiv... ORPHA:1832
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Ring Chromosome 7 Syndrome
Small hand, Prominent crus of helix, Narrow naris, Genu valgum, Narrow mouth, Lumbar kyphoscolios... ORPHA:1449
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria... ORPHA:169079
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia, Decreased... OMIM:312863
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Abnormality of the outer ear, Toe syndactyly, Sandal gap, Anteverte... ORPHA:217340
Mosaic Trisomy 14
Wide nasal bridge, Camptodactyly of finger, Low-set, posteriorly rotated ears, Anteverted nares, ... ORPHA:1703
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Distal Deletion 10P
Wide nasal bridge, Webbed neck, Hearing impairment, Non-midline cleft of the upper lip, Macrotia,... ORPHA:1580
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni... ORPHA:277
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Low-set ears, Clinodactyly, Hearing impairment, Recurrent otitis media, Micrognathia, Open mouth,... OMIM:613604
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me... OMIM:612350
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphopeni... OMIM:616100
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Acrodysostosis
Hearing impairment, Abnormal female external genitalia morphology, Open bite, Open mouth, Cryptor... ORPHA:950
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Wide nasal bridge, Conductive hearing impairment, Underdeveloped nasal alae, Micrognathia, Joint ... OMIM:248910
Catel-Manzke Syndrome
Low-set ears, Narrow naris, Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Cryptor... OMIM:616145
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Flat face, Short toe, Hearing impairment, Short nose, Genu valgum, Limited elb... OMIM:614078
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Microretrognathia, Flat face, Finge... ORPHA:2994
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Fibular bowing, Micrognathia, Sensorineural ... ORPHA:1427
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Depressed nasal bridge, High anterior hairline, Broad thumb, Widely... OMIM:617364
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Disseminated molluscum contagiosum, Eosinophilia, Severe cytomeg... OMIM:617638
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Wiedemann-Steiner Syndrome
Low-set ears, Small hand, Recurrent otitis media, Long hallux, Contracture of the distal interpha... OMIM:605130
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Short nose... OMIM:614701
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Flat face, Scoliosis, Hypoplastic cervical vertebrae, Elbow dislocation, Cerebral atrophy, Retrog... OMIM:620269
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Trisomy 12P
Low-set ears, Wide nasal bridge, Flat face, Downturned corners of mouth, Supernumerary nipple, Mi... ORPHA:1699
Renpenning Syndrome
Narrow mouth, Sensorineural hearing impairment, Round ear, Anal atresia, Hypospadias, Long face, ... ORPHA:3242
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Pierpont Syndrome
Hearing impairment, Large fleshy ears, Cryptorchidism, Short neck, Everted lower lip vermilion, M... OMIM:602342
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Schwartz-Jampel Syndrome, Type 1
Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac... OMIM:255800
Even-Plus Syndrome
Epiphyseal dysplasia, Depressed nasal ridge, Bifid nasal tip, Sparse hair, Highly arched eyebrow,... OMIM:616854
Distal Monosomy 7Q36
Flat face, Large face, Macrotia, Bulbous nose, Wide mouth, Micrognathia, Cryptorchidism, Bilatera... ORPHA:1636
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Decreased proportion of class-switched memory B c... OMIM:614878
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Severe varicella zoster infection, Recurrent otitis media, Decreased circu... ORPHA:397596
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Micrognathia, Cryptorchidism, Prominent nasal tip, Broad phalanx, Bilateral c... ORPHA:439822
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Hypoplasia of the pons, Cryptorchidism, Sparse eyelashes, Talipes equinovarus, Hypo... OMIM:619293
15Q24 Microdeletion Syndrome
Wide nasal base, Abnormality of the outer ear, Small hand, Clinodactyly, Hearing impairment, Narr... ORPHA:94065
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Hand clenching, Retrognathia, Cerebral atrophy, Micrognathia, Cryptorchidism, Singl... OMIM:611890
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia,... ORPHA:2015
Glass Syndrome
Low-set ears, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Long nose, High pa... OMIM:612313
Orofaciodigital Syndrome Xv
Low-set ears, Cerebellar vermis hypoplasia, Wide nasal bridge, Midline notch of upper alveolar ri... OMIM:617127
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Narrow naris, Short neck, High palate, Sparse hair, Rectal prolapse, Short metacarpal, Short nose... OMIM:617157
Keppen-Lubinsky Syndrome
Abnormally large globe, Underdeveloped nasal alae, Narrow naris, Respiratory insufficiency, Decre... ORPHA:435628
Stuve-Wiedemann Syndrome 1
Low-set ears, Wide nasal base, Carious teeth, Square face, Short tibia, Pursed lips, Micrognathia... OMIM:601559
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Low-set ears, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly o... ORPHA:2863
Distal Deletion 17Q
Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies, Aplasia/Hypop... ORPHA:1597
Zechi-Ceide Syndrome
Low-set ears, Short distal phalanx of finger, Cerebellar vermis hypoplasia, Cleft lip, Abnormal h... ORPHA:217017
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Preauricular skin tag, Cleft lip, Conductive hearing impairment, Underdeveloped ... ORPHA:398156
Pierpont Syndrome
Hearing impairment, Excessive wrinkling of palmar skin, Cryptorchidism, Short neck, Everted lower... ORPHA:487825
Emery-Nelson Syndrome
Depressed nasal bridge, Flat face, Long philtrum, Camptodactyly of finger, Interphalangeal thumb ... ORPHA:1927
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Carpenter Syndrome 2
Low-set ears, Broad thumb, Carious teeth, Narrow naris, Supernumerary nipple, Cutaneous finger sy... OMIM:614976
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Low-set ears, Broad thumb, Prominent crus of helix, Open mouth, Protruding tongue, Everted lower ... OMIM:617804
Cutis Laxa, Autosomal Recessive, Type Iic
Low-set ears, Hand clenching, Narrow naris, Overlapping toe, Narrow mouth, Talipes equinovarus, H... OMIM:617402
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Short neck, Hypospadia... OMIM:616897
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Crumpled ear, Abnormal epiphy... ORPHA:1458
Intellectual Developmental Disorder, X-Linked 30
Flat face, Prominent fingertip pads, Thick upper lip vermilion, Anteverted nares, Prominent nasal... OMIM:300558
Wilson-Turner Syndrome
Small hand, Broad nasal tip, Malar prominence, Micrognathia, Thick eyebrow, Cryptorchidism, Thin ... ORPHA:3459
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... OMIM:616098
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Neutropenia,... OMIM:300755
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Broad long bones, Micrognathia, Narrow mouth, Cryptorchidism, Talipes equinovarus, ... ORPHA:1865
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... OMIM:102370
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Microgn... ORPHA:1988
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Thin skin, Respiratory distress, Bulbous nose, Micrognathia, Microcephaly, Apl... ORPHA:261304
Immunodeficiency 19
Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Recu... OMIM:615617
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Decrease... OMIM:615767
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Low-set,... ORPHA:2631
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t... OMIM:619752
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Trichorhinophalangeal Syndrome, Type Iii
Pear-shaped nose, Short foot, Sparse hair, Short metacarpal, Coxa magna, Bulbous nose, Avascular ... OMIM:190351
Acrofacial Dysostosis Syndrome Of Rodriguez
Low-set ears, Absent forearm, Wide nasal bridge, Short tibia, Clinodactyly, Oligodactyly, Overlap... OMIM:201170
Prolidase Deficiency
Erythema, Carious teeth, Hearing impairment, Dry skin, Genu valgum, Micrognathia, Bilateral singl... ORPHA:742
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Short 5th finger, Tooth malposition, Low-set ears, Horizontal eyebrow, Hearing impairment, Anteve... OMIM:618608
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening... OMIM:616740
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Short neck, Round face, Advanced ossification of carpal bones,... OMIM:615777
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Distal Duplication 15Q
Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Abnormal female external gen... ORPHA:1707
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Flat Face-Microstomia-Ear Anomaly Syndrome
Aplasia/Hypoplasia of the earlobes, Small scrotum, Micrognathia, Narrow mouth, Cryptorchidism, Ab... ORPHA:1968
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Low-set ears, Hand clenching, Depressed nasal bridge, Parietal cortical atrophy, Bulbous nose, Mi... OMIM:618766
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Squamous cell carcinoma, Scarring alopecia of... OMIM:602540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous ... OMIM:102700
Premature Aging Syndrome, Penttinen Type
Dermal atrophy, Micrognathia, Sensorineural hearing impairment, Aplasia of the nasal bone, Flexio... OMIM:601812
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Nicolaides-Baraitser Syndrome
Cryptorchidism, Excessive wrinkled skin, Abnormal metacarpal morphology, Everted lower lip vermil... ORPHA:3051
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Wide nasal bridge, Small hand, Clinodactyly, Long philtrum, Thick eyebrow, Widow's peak, Cryptorc... OMIM:614684
Roberts-Sc Phocomelia Syndrome
Low-set ears, Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Enlar... OMIM:268300
Ohdo Syndrome, X-Linked
Low-set ears, Small scrotum, Clinodactyly, Hearing impairment, Overlapping toe, Micrognathia, Nar... OMIM:300895
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent infections, Decreased circulating IgG level, Decreased lymphocyte proliferation in resp... ORPHA:169160
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Hearing impairment, Micrognathia, Narrow mouth, Agenesis of corpus callosum, Short neck, Short no... OMIM:620250
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Cryptorchidism, ... OMIM:611209
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
2Q32Q33 Microdeletion Syndrome
Low-set ears, Broad thumb, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, High ... ORPHA:251019
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Hearing impairment, Micrognathia, Cryptorchidism, Short neck, High pa... OMIM:300882
Immunodeficiency 9
Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Hypoplasi... OMIM:612782
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Hearing impairment, Supernumerary nipple, Recurrent ... OMIM:129400
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... ORPHA:2585
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Zimmermann-Laband Syndrome 3
Facial hypertrichosis, Clinodactyly, Long hallux, Long thumb, High palate, Absent distal phalanx ... OMIM:618658
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Sepsis, Sever... OMIM:243700
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Finger syndactyly, Thick eyebrow, Epicanthus, Radioulnar synostosis... ORPHA:3268
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Wide nasal bridge, Atypical scarring of skin, Sparse eyebrow, Atrophic scars, Abnormality of prim... ORPHA:75496
Crossed Polysyndactyly
Finger syndactyly, Upslanted palpebral fissure, Aplasia/Hypoplasia of the thumb, Abnormality of t... ORPHA:2935
Non-Distal Duplication 10Q
Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Microcep... ORPHA:1695
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Small hand, Toe syndactyly, Hearing impairment, Secondary microcephaly, Micrognathia, Cryptorchid... OMIM:610759
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Hypoplasia of the maxilla, Preauricular skin tag, Conductive hearing... ORPHA:79113
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Abnormal vertebral morphology, Hearing impairment, Subluxation of the small joints ... ORPHA:536471
Recon Progeroid Syndrome
Dry skin, Long thumb, Prominence of the premaxilla, Arachnodactyly, Round face, Absent lower eyel... OMIM:620370
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Talipes equinovarus, Short neck, High... OMIM:619110
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Tessier cleft, Abnormal vertebral morphology, Broad nasal tip, Conductive heari... OMIM:239800
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Clitoral hypertrophy, Carious teeth, Micrognathia, Narrow mouth, Hypoplasia of the ... OMIM:244450
Developmental And Epileptic Encephalopathy 89
Low-set ears, Clitoral hypertrophy, Death in childhood, Hypoplasia of the corpus callosum, Neonat... OMIM:619124
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cerebral cortical atrophy, Ulnar deviation of finger, Tooth malposition, Depressed nasal bridge, ... ORPHA:1387
Tetrasomy 5P
Low-set ears, Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Short hallux, High ... ORPHA:3309
Auriculocondylar Syndrome 2A
Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Round face, Stenosis of the externa... OMIM:614669
Warburg Micro Syndrome 1
Low-set ears, Facial hypertrichosis, Overlapping toe, Micrognathia, Narrow mouth, Cryptorchidism,... OMIM:600118
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... OMIM:615122
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Ulnar deviation of finger, Hypoplasia of the maxilla, Depressed nasal brid... ORPHA:1529
19Q13.11 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Hearing impairment, Supernumerary nipple, Dry skin, Cryptorchi... ORPHA:217346
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, R... OMIM:614700
Dysostosis, Stanescu Type
Carious teeth, Cerebral calcification, Bowing of the long bones, Short neck, Flat face, Hypoplasi... ORPHA:1798
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Hearing impairment, Cleft soft palate, Micrognathia, Cryptorchidism, S... OMIM:616331
Moebius Syndrome
Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Short ne... OMIM:157900
Selective Igm Deficiency
Lymphadenitis, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess,... ORPHA:331235
Distal Deletion 1Q
Low-set ears, Depressed nasal bridge, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Mi... ORPHA:36367
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... ORPHA:169154
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent infections, Leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Fol... OMIM:614470
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, Low posterior hairline, Cubitus valgus, ... OMIM:300577
Cutis Laxa, Autosomal Recessive, Type Iia
Low-set ears, Carious teeth, Narrow mouth, Excessive wrinkled skin, Brittle hair, High palate, Sh... OMIM:219200
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Supernumerary nipple, Cryptorchidism, Talipes equinovarus, Microphthalmia, High pal... OMIM:612530
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4... OMIM:618495
Keppen-Lubinsky Syndrome
Abnormally large globe, Underdeveloped nasal alae, Narrow naris, Respiratory insufficiency, Narro... OMIM:614098
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... OMIM:308230
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... OMIM:619164
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Narro... OMIM:617746
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Flat face, Preauricular skin tag, Retrognathia, Patellar hypoplasia, Long ... ORPHA:464288
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Wide nasal bridge, High anterior hairline, Broad nasal tip, Long philtrum, Thick na... OMIM:618147
3C Syndrome
Low-set ears, Finger syndactyly, Micrognathia, Short neck, Anal atresia, Hypospadias, Short nose,... ORPHA:7
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hearing impairment, Pursed lips, Narrow mouth, Cryptorchidism, Hip... OMIM:193700
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h... OMIM:611717
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Slender finger, Choanal atresia, Preauricular skin tag, Conductive hearing impairme... OMIM:610536
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Cryptorchidism, Arachnodactyly, Long nose, Anal atresia, Narrow maxilla, High pala... OMIM:617602
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Facial wrinkling, Skin tags, Micrognath... OMIM:305450
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormality of the outer ear, Finger syndactyly, M... ORPHA:2753
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Low-set ears, Death in childhood, Tachypnea, Round face, Short n... OMIM:613320
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Broad long bones, Thick upper lip vermilion, Abnormal metatarsal morp... ORPHA:163654
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Flat face, Anisospondyly, Micromelia, Respiratory insufficiency, Micrognathia,... OMIM:224410
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Low-set ears, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplasti... OMIM:151210
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Highly arched eyebrow, Toe syndactyly, Sparse lateral e... ORPHA:261120
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Hearing impairment, Resp... ORPHA:1914
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Actinic keratosis, Nail dystrophy, O... OMIM:614564
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Flat face, Deviation of finger, Abnormal form of the vertebral... ORPHA:2831
Larsen-Like Syndrome
Low-set ears, Flat face, Dental malocclusion, Conductive hearing impairment, Recurrent otitis med... OMIM:608545
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... ORPHA:100024
19P13.3 Microduplication Syndrome
Low-set ears, Clinodactyly, Micrognathia, Narrow mouth, Long face, Hip dislocation, Precocious pu... ORPHA:447980
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Fibrochondrogenesis 1
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, ... OMIM:228520
Pfeiffer Syndrome
Wide nasal bridge, Flat face, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypopla... ORPHA:710
Abruzzo-Erickson Syndrome
Flat face, Ulnar deviation of finger, Toe syndactyly, Conductive hearing impairment, Short toe, M... ORPHA:921
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, H... OMIM:301078
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Choanal atresia, Wide nasal bridge, Abnormal form of the vertebral bodies, Aplasia/... ORPHA:2759
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Flat face, Broad nasal tip, Dental malocclusion, Scoliosis, Lumbar hy... OMIM:619719
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Recurrent ... ORPHA:436159
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr... ORPHA:217390
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Low-set ears, Broad thumb, Toe syndactyly, Hearing impairment, Aplasia/Hypoplasia of the corpus c... ORPHA:505237
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618108
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Clinodactyly, Long philtrum, Thick nasal alae, Micrognathia, Wide nose, Malar flatt... ORPHA:357175
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Intestinal lymphangiectasia, Splenom... OMIM:620632
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Clinodactyly, ... ORPHA:96148
Catel-Manzke Syndrome
Highly arched eyebrow, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Low... ORPHA:1388
Intellectual Developmental Disorder, Autosomal Recessive 35
Low-set ears, Clinodactyly, Downturned corners of mouth, Long philtrum, Thick nasal alae, Microgn... OMIM:615162
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Holoprosencephaly 9
Hypoplasia of the premaxilla, Underdeveloped tragus, Cryptorchidism, Anophthalmia, Bilateral clef... OMIM:610829
Sandestig-Stefanova Syndrome
Low-set ears, Wide nasal bridge, Highly arched eyebrow, Clinodactyly, Retrognathia, Sparse medial... OMIM:618804
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... ORPHA:2688
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Crumpled ear, Clinodactyly, Hearing impairment, Frontal upsweep of hair, Round face, Everted lowe... OMIM:620494
Kbg Syndrome
Bilateral conductive hearing impairment, Cryptorchidism, Short neck, Round face, Widely-spaced ma... ORPHA:2332
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Depressed nasal bridge, Toe syndactyly, Cerebral atrophy, Long philtrum, Anteverted... ORPHA:171839
Emanuel Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchidism, Hypoplasi... OMIM:609029
Marshall-Smith Syndrome
Choanal atresia, Conductive hearing impairment, Slender long bone, Retrognathia, Anteverted nares... ORPHA:561
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... OMIM:618204
Intellectual Disability, Wolff Type
Wide nasal bridge, Short distal phalanx of finger, Broad thumb, Microretrognathia, Camptodactyly ... ORPHA:3080
Chung-Jansen Syndrome
Long philtrum, Large earlobe, Short nose, Anteverted nares, Micrognathia, Thick eyebrow, Cryptorc... OMIM:617991
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Low-set ears, Small hand, Hearing impairment, Hypoplasia of the corpus callosum, Anal atresia, Sh... OMIM:300968
Campomelic Dysplasia
Low-set ears, Hearing impairment, Micrognathia, Bowing of the long bones, Talipes equinovarus, Ma... ORPHA:140
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Flat face, Platyspondyly, Abnormal epiphysis morphology, Genu valgum, Micro... ORPHA:250984
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Temporomandibular joint ankylo... ORPHA:141152
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Narrow face, Abnormal form of the vertebral bodies,... ORPHA:3104
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Overlapping toe, Micrognathia, Open mouth, Cryptorchidism, Irregular dentitio... OMIM:619148
Skin Creases, Congenital Symmetric Circumferential, 1
Low-set ears, Depressed nasal bridge, Flat face, Long philtrum, Micrognathia, Narrow mouth, Hypop... OMIM:156610
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
20Q11.2 Microduplication Syndrome
Tented philtrum, Cryptorchidism, Thickened ears, Short foot, Short nose, Flat face, Low-set, post... ORPHA:363659
Cutis Laxa, Autosomal Recessive, Type Iid
Low-set ears, Wide nasal bridge, Retrognathia, Bilateral cryptorchidism, Narrow naris, Bulbous no... OMIM:617403
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Flat face, Abnormal vertebral morphology, ... ORPHA:93346
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Acrocallosal Syndrome
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip ve... OMIM:200990
Nabais Sa-De Vries Syndrome, Type 2
Low-set ears, Depressed nasal bridge, Sparse eyebrow, Gastroesophageal reflux, Bulbous nose, Prom... OMIM:618829
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Low-set ears, Small scrotum, Hearing impairment, Narrow mouth, Cryptorchidism, Hypoplasia of the ... OMIM:601353
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathi... ORPHA:536467
Meier-Gorlin Syndrome 1
Low-set ears, Joint contracture of the hand, Small hand, Clitoral hypertrophy, Elbow dislocation,... OMIM:224690
Fetal Akinesia Deformation Sequence 4
Low-set ears, Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Cryptorchidism, Pr... OMIM:618393
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Elevated circulating hepatic transaminase concentration, Respirato... OMIM:615042
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Cerebral calcification, Micrognathia, High, narrow palate, Flat face, Coarse metaph... ORPHA:2780
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Secondary microcephaly, Micrognathia, Open mouth, Low posterior hairline, Everted l... OMIM:156200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent infections, Dec... OMIM:616910
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... OMIM:618048
Intellectual Developmental Disorder, Autosomal Dominant 59
Low-set ears, Flat face, Highly arched eyebrow, Long philtrum, Sacral dimple, Protruding ear, Bra... OMIM:618522
Chromosome 5Q12 Deletion Syndrome
Flat face, Long philtrum, Prominent nose, Micrognathia, Overfolded helix, Long toe, Posteriorly r... OMIM:615668
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Intellectual Developmental Disorder, Autosomal Recessive 45
Wide nasal bridge, Flat face, Highly arched eyebrow, Retrognathia, Bulbous nose, Anteverted nares... OMIM:615979
Focal Facial Dermal Dysplasia Type Iii
Wide nasal bridge, Depressed nasal ridge, Highly arched eyebrow, Downturned corners of mouth, Hyp... ORPHA:1807
Apert Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Agenesis of corpus callosum, Sensorineural hearin... ORPHA:87
Hemifacial Microsomia With Radial Defects
Preauricular skin tag, Conductive hearing impairment, Atresia of the external auditory canal, Hem... OMIM:141400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Cryptorchidism, Microphthalmia, Anal atresia, Flat acetabular roof, Mac... OMIM:616300
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Lumbar hypertrichosis, Short neck, Bulbous nose, Low anterior hairline, Cerebellar hypoplasia, Th... OMIM:618622
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Low-set ears, Wide nasal bridge, Flat face, Reduced cerebral white matter volume, Downturned corn... OMIM:617333
Campomelic Dysplasia
Delayed epiphyseal ossification, Low-set ears, Hypoplastic scapulae, Carious teeth, Hypoplastic c... OMIM:114290
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Bifid uvula, Small hand, Cleft lip, Sandal gap, Clinodactyly, Downturned corners of... OMIM:618089
Fg Syndrome Type 1
Clinodactyly of the 2nd finger, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Fac... ORPHA:93932
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Wide nasal bri... OMIM:617102
Tetrasomy 12P
Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe... ORPHA:884
Focal Dermal Hypoplasia
Low-set ears, Erythema, Toe syndactyly, Finger syndactyly, Hearing impairment, Open bite, Dermal ... ORPHA:2092
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Frontal balding, Abnormal antihelix morphology, Thoracolumbar scoliosis, Everted lower lip vermil... ORPHA:3041
Distal Duplication 18Q
Progressive intervertebral space narrowing, Carious teeth, Abnormal female external genitalia mor... ORPHA:1716
Emanuel Syndrome
Low-set ears, Tooth malposition, Hearing impairment, Recurrent otitis media, Micrognathia, Crypto... ORPHA:96170
Myoectodermal Gonadal Dysgenesis Syndrome
Low-set ears, Bifid distal phalanx of toe, Dry skin, Cutaneous finger syndactyly, Frontal upsweep... OMIM:618419
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Carious teeth, Conductive hearing impairment, Atresia of the external a... ORPHA:2316
Achondrogenesis Type 1B
Flat face, Micromelia, Long philtrum, Anteverted nares, Micrognathia, Talipes equinovarus, Short ... ORPHA:93298
Craniofacial Microsomia 2
Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Skin tags, ... OMIM:620444
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Perlman Syndrome
Low-set ears, Naevus flammeus of the eyelid, Micrognathia, Open mouth, Bilateral single transvers... ORPHA:2849
Robinow Syndrome, Autosomal Dominant 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, S... OMIM:180700
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Rhizomelia, Flat face, Abnormal epiphysis morphology, Alopecia, Spa... ORPHA:177
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Low-set, posterior... ORPHA:2370
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Preauricular skin tag, Dental crowdin... OMIM:616367
Spondyloepiphyseal Dysplasia Congenita
Hearing impairment, Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movem... ORPHA:94068
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Low-set ears, Genu valgum, Narrow mouth, Micrognathia, Low posterior hairlin... OMIM:245600
Chromosome 6Q11-Q14 Deletion Syndrome
Low-set ears, Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Sacral dimple, Micrognath... OMIM:613544
Craniosynostosis, Herrmann-Opitz Type
Webbed neck, Micromelia, Finger syndactyly, Micrognathia, Abnormal antihelix morphology, Malar fl... ORPHA:2145
Perching Syndrome
Depressed nasal bridge, Respiratory distress, Camptodactyly, High palate, Scoliosis, Dysphagia OMIM:617055
Achondrogenesis Type 1A
Flat face, Micromelia, Long philtrum, Short nose, Anteverted nares, Micrognathia, Short neck, Mac... ORPHA:93299
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Atresia of the external auditory canal, ... OMIM:146510
Pfeiffer Syndrome Type 2
Deviation of the thumb, Low-set ears, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly,... ORPHA:93259
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... OMIM:267500
Lenz-Majewski Hyperostotic Dwarfism
Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Agenesis of c... OMIM:151050
Vulto-Van Silfhout-De Vries Syndrome
2-3 toe cutaneous syndactyly, Flat face, Horizontal eyebrow, Prominent fingertip pads, Fine hair,... OMIM:615828
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Intellectual Developmental Disorder, Autosomal Dominant 43
Narrow mouth, Hypoplasia of the corpus callosum, Frontal cortical atrophy, High palate, Gastroeso... OMIM:616977
Acrogeria
Small hand, Skin ulcer, Fine hair, Micrognathia, Excessive wrinkled skin, Aplasia/Hypoplasia of t... ORPHA:2500
Blepharocheilodontic Syndrome 1
Choanal atresia, Conical tooth, Flat face, High anterior hairline, Clinodactyly, Cleft upper lip,... OMIM:119580
Trichorhinophalangeal Syndrome Type 1
Shortening of all phalanges of fingers, Micrognathia, Sparse eyelashes, High palate, Sparse hair,... ORPHA:77258
Immunodeficiency 92
Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... OMIM:619652
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes... ORPHA:2756
Spondylometaphyseal Dysplasia, X-Linked
Wide nasal bridge, Depressed nasal bridge, Platyspondyly, Short finger, Hyperextensibility of the... OMIM:313420
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Achondrogenesis
Flat face, Micromelia, Long philtrum, Anteverted nares, Micrognathia, Short neck, Macrocephaly, S... ORPHA:932
Simosa Craniofacial Syndrome
High, narrow palate, Low-set ears, Wide nasal bridge, Flat face, Sparse eyebrow, Highly arched ey... OMIM:182150
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Hemifacial atrophy, Patchy alopecia, Poliosis, To... OMIM:141300
Xk Aprosencephaly Syndrome
Narrow mouth, Microcephaly, Abnormal morphology of the radius, Microphthalmia, Abnormal nostril m... ORPHA:3469
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatitis, Hemophagocytosis, Recurrent respiratory infections, Pancytopenia, Spl... OMIM:300635
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:602450
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Hadziselimovic Syndrome
Low-set ears, Thick lower lip vermilion, Anteverted nares, Prominent nasal bridge, Hypoplasia of ... OMIM:612946
Acrootoocular Syndrome
Low-set ears, Wide nasal base, Atresia of the external auditory canal, Abnormal earlobe morpholog... ORPHA:2980
Van Maldergem Syndrome 1
Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ... OMIM:601390
Reticular Dysgenesis
Sepsis, Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Leukopenia, Anemia, A... ORPHA:33355
Fryns Syndrome
Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Short neck, Microphthalmia, Anal atres... ORPHA:2059
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Isolated Klippel-Feil Syndrome
Webbed neck, Hearing impairment, Abnormality of the vertebral column, Abnormal shoulder morpholog... ORPHA:2345
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
8Q22.1 Microdeletion Syndrome
Low-set ears, Finger syndactyly, Cryptorchidism, Abnormal antihelix morphology, Sparse eyelashes,... ORPHA:178303
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Depressed nasal bridge, Sandal gap, Hypoplasia of the zygomatic bone, Retrognathia,... ORPHA:1812
Orofaciodigital Syndrome Xix
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narro... OMIM:620107
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Platyspondyl... ORPHA:163966
Cebalid Syndrome
Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Flat face, Highly arched eyebrow, He... OMIM:618774
Thanatophoric Dysplasia
Low-set ears, Abnormal ilium morphology, Depressed nasal bridge, Flat face, Platyspondyly, Microm... ORPHA:2655
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Gastroesophageal reflux, Camptodactyly of finger, Respiratory distress, Re... OMIM:614399
Atelosteogenesis Type Ii
Low-set ears, Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Mi... ORPHA:56304
Martsolf Syndrome 1
Low-set ears, Tooth malposition, Micrognathia, Cryptorchidism, Low posterior hairline, Talipes eq... OMIM:212720
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Depressed nasal bridge,... ORPHA:2097
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Underdeveloped nasal alae, Anteverted nares, Congenital pyloric atresia, Neonatal death, Aplasia ... OMIM:612138
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr... OMIM:600802
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infectio... OMIM:618116
Frontonasal Dysplasia 1
Low-set ears, Joint contracture of the hand, Clinodactyly, Agenesis of corpus callosum, Microphth... OMIM:136760
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Opportunistic infection, Intestinal lymphan... ORPHA:90362
Robinow Syndrome, Autosomal Recessive 2
Low-set ears, Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Short nose, Broad nasal... OMIM:618529
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia... ORPHA:572
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Esophagitis, Arachnodactyly, Hip dislocation, Macrotia, Short nose, Lon... ORPHA:3342
Skin Creases, Congenital Symmetric Circumferential, 2
Low-set ears, Small scrotum, Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Hypoplasi... OMIM:616734
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:601859
Cofs Syndrome
Wide nasal bridge, Cerebral cortical atrophy, Camptodactyly of finger, Hypogonadism, Cerebral cal... ORPHA:1466
Intellectual Developmental Disorder, Autosomal Dominant 23
Low-set ears, Micrognathia, Hypospadias, Downturned corners of mouth, Bulbous nose, Low anterior ... OMIM:615761
Weiss-Kruszka Syndrome
Low-set ears, Abnormality of the outer ear, Highly arched eyebrow, Hearing impairment, Cryptorchi... ORPHA:502430
Nager Syndrome
Sparse lower eyelashes, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hearing impa... ORPHA:245
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Zellweger Syndrome
Clitoral hypertrophy, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Hepatomegal... ORPHA:912
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Broad thumb, Clinodactyly, Hearing impairment, Micrognathia, Cryptorchidism, Short ... OMIM:616894
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Cerebral calcification, Mi... ORPHA:628
Kleefstra Syndrome 1
Natal tooth, Hearing impairment, Cryptorchidism, Protruding tongue, Talipes equinovarus, Everted ... OMIM:610253
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equinovar... OMIM:616570
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Clark-Baraitser Syndrome
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Sandal gap, Clinodactyly, Long... OMIM:617752
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Rhizomelia, Flat face, Abnormal epiphysis morphology, Micromelia, Abnormal... ORPHA:1842
Difference Of Sex Development-Intellectual Disability Syndrome
Small scrotum, Downturned corners of mouth, Hypogonadism, Low-set, posteriorly rotated ears, Genu... ORPHA:2983
Al-Raqad Syndrome
Low-set ears, Flat face, Sandal gap, Narrow mouth, Thin upper lip vermilion, Microcephaly, Brachy... OMIM:616459
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... OMIM:301045
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal... OMIM:170390
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Long philtrum,... ORPHA:261295
16P11.2P12.2 Microdeletion Syndrome
Low-set ears, Toe syndactyly, Hearing impairment, Open mouth, Bilateral single transverse palmar ... ORPHA:261211
Oculoauriculovertebral Spectrum With Radial Defects
Preauricular skin tag, Abnormality of the middle ear ossicles, Conductive hearing impairment, Atr... ORPHA:2549
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Overlapping toe, Overlapping fingers, Cryptorchidism, Hypospadias, Short nose, Gast... OMIM:618316
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thick eyebrow, Thin upper lip vermilion, Low posterior hairline, Coarse fa... ORPHA:2429
Non-Distal Duplication 13Q
Aplasia/Hypoplasia of the earlobes, Abnormality of the dentition, Long philtrum, Micrognathia, Th... ORPHA:1702
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Flat face, Narrow naris, Malar flattening, Sen... OMIM:122880
Congenital Disorder Of Glycosylation, Type Iy
Clinodactyly, Widely spaced teeth, Respiratory distress, Wide mouth, Micrognathia, Hypoplasia of ... OMIM:300934
Ck Syndrome
Narrow face, Dental crowding, Retrognathia, Kyphosis, Polymicrogyria, Micrognathia, Prominent nas... OMIM:300831
Ruvalcaba Syndrome
Small hand, Dental crowding, Micromelia, Underdeveloped nasal alae, Kyphosis, Narrow nose, Limite... OMIM:180870
Schwartz-Jampel Syndrome
Elbow dislocation, Pursed lips, Genu valgum, Narrow mouth, Micrognathia, Hip contracture, Bowing ... ORPHA:800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, H... OMIM:266920
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections OMIM:619693
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Preauricular skin tag, Conductive hearing impairment, Hypogonadism, Stenosis of the... ORPHA:3216
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... OMIM:601495
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic... ORPHA:969
Proximal 16P11.2 Microduplication Syndrome
Flat face, Sparse eyebrow, Abnormality of the hairline, Sparse eyelashes, Arachnodactyly, Microce... ORPHA:370079
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Large earlobe, Anteverted nare... OMIM:616809
Acrocephalopolydactyly
Depressed nasal ridge, Hepatosplenomegaly, Short neck, Limb undergrowth, Brachydactyly, Short lon... ORPHA:221054
Peroxisome Biogenesis Disorder 7A (Zellweger)
Low-set ears, Flat face, Long philtrum, Polymicrogyria, Epiphyseal stippling, Death in infancy, T... OMIM:614872
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnod... OMIM:300373
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Saethre-Chotzen Syndrome
Low-set ears, Broad thumb, Finger syndactyly, Hearing impairment, Prominent crus of helix, Open b... ORPHA:794
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Cryptorchidism, Hypoplasi... OMIM:175700
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e... ORPHA:2839
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Intellectual Developmental Disorder, Autosomal Dominant 73
Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Bilateral single transver... OMIM:620450
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Distal Duplication 5Q
Low-set ears, Flat face, Carious teeth, Absent thumb, Long philtrum, Short nose, Micrognathia, Na... ORPHA:96097
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Micrognathia, Abnormal gastrointestinal tract morphology, Abnormal int... ORPHA:1834
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Abnormal femur morphology, Lower limb undergrowth, Hyperlordosis, ... ORPHA:2310
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Velopharyngeal insufficiency, Hearing impairment, Thick upper lip vermilion, Overl... ORPHA:363444
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Beaking of vertebral bodies... OMIM:215150
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Frontal upsweep of hair, High palate, Dysphagia, Short nose, Macrotia, Bulbous nose... OMIM:617061
Microphthalmia With Limb Anomalies
Low-set ears, Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes ... OMIM:206920
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Skin tags, Narrow mouth, Frontal upsweep of hair, Agenesis of corpus callosum, Sens... OMIM:612582
Contractures-Developmental Delay-Pierre Robin Syndrome
Overlapping toe, Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Cerebr... ORPHA:436003
Mullegama-Klein-Martinez Syndrome
Low-set ears, Atresia of the external auditory canal, Micrognathia, Sensorineural hearing impairm... OMIM:301022
Adenylosuccinate Lyase Deficiency
Low-set ears, Long philtrum, Anteverted nares, Hypointensity of cerebral white matter on MRI, Thi... ORPHA:46
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Clinodactyly, Cryptorchidism, Protruding tongue, Sensorineural hearing impairment, ... OMIM:301040
3-Hydroxyisobutyric Aciduria
Cerebral cortical atrophy, Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Cerebral cal... ORPHA:939
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Abnormal gastrointestinal... ORPHA:404440
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square p... ORPHA:166272
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Low-set ears, Supernumerary nipple, Joint contracture of the 5th finger, Microphthalmia, Sparse e... OMIM:620098
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Depressed nasal bridge, Flat face, Hearing impairment, Intestinal lymphangiectasia, Narrow mouth,... OMIM:616006
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Supernumerary nipple, Recurrent otitis media, Overlapping toe, Micrognathia, Hypopl... OMIM:213980
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Preauricular skin tag, Cupped ear, Abnormality of the calcaneus, Anteve... ORPHA:40366
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Natal tooth, Sandal gap, Widely spaced toes, Alopecia totalis, Mitten defor... OMIM:609638
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Micrognathia, Narrow mouth, Hypoplasia of the corpus callosum, Sensorineural hearin... ORPHA:391408
Van Maldergem Syndrome 2
Clinodactyly, Hearing impairment, Atresia of the external auditory canal, Cutaneous finger syndac... OMIM:615546
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Nicolaides-Baraitser Syndrome
Wide nasal base, Dry hair, Broad 2nd toe, Short lingual frenulum, Cryptorchidism, Excessive wrink... OMIM:601358
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Abnormality of the dentition, Short thumb, Oligodontia, Abnormal facial shape, Triphalangeal thum...