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Gene: Fos MGI:95574

Gene Summary

Name:

FBJ osteosarcoma oncogene

Synonyms:

cFos, c-fos, D12Rfj1

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased lean body mass	Fos^em1(IMPC)Mbp	HET	Early adult	6.62×10^-05
preweaning lethality, incomplete penetrance	Fos^em1(IMPC)Mbp	HOM	Early adult	0.00
hemorrhage	Fos^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal facial morphology	Fos^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Fos^em1(IMPC)Mbp	HOM	E18.5	0.00
increased total body fat amount	Fos^em1(IMPC)Mbp	HET	Early adult	2.28×10^-05

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E18.5

Images

4 Images

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Human diseases caused by Fos 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 Fos (1 diseases)
Human diseases predicted to be associated with Fos (1538 diseases)

The table below shows human diseases associated to Fos by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Congenital Generalized Lipodystrophy		Mandibular prognathia, Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in fema...	ORPHA:528

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

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Torus palatinus, Calvarial osteoscler...	OMIM:607634
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Osteoglosphonic Dysplasia	Failure to thrive in infancy, Anteverted nares, Craniosynostosis, Micrognathia, Choanal atresia, ...	ORPHA:2645
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Pancytopenia, Femur fracture, Osteomyelitis, Cranio...	OMIM:259700
Pyknoachondrogenesis	Increased bone mineral density, Stillbirth	OMIM:265880
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Sepsis, Hepato...	OMIM:612840
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u...	ORPHA:2204
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections...	OMIM:615897
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m...	ORPHA:3416
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Abnormality of the ...	ORPHA:3152
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl...	ORPHA:2790
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Conical tooth, Increased T cell count, Increased circulating IgG level, Increased B c...	ORPHA:98813
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Micrognathia, Prelingual sensorineural hearing impairment, Clinodactyly of the 5th finger, Hypera...	ORPHA:73272
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Desmosterolosis	Failure to thrive, Increased bone mineral density, Depressed nasal bridge, Micromelia, Micrognath...	ORPHA:35107
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Abnormality of the dentition, High pa...	ORPHA:217340
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent sinopulmonary infections, Wide nose, Eosinophilia, Craniosynostosis, Persis...	OMIM:147060
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Wide nasal bridge, Osteopetrosis, Abnormal met...	ORPHA:1522
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Fac...	ORPHA:2780
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Ck Syndrome	Dental crowding, Slender build, Prominent nasal bridge, Micrognathia, High palate, Malar flatteni...	OMIM:300831
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Persistence of primary teeth, Supernumerary tooth, Increased circulating IgE level, ...	OMIM:619752
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Conical tooth, Thromb...	OMIM:617475
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,...	OMIM:611490
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinod...	ORPHA:166277
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Underdeveloped nasal ala...	OMIM:190351
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Posteriorly rotated ears, Premature birth, Micrognathia, Crowded maxillary incisors, Cryptorchidi...	ORPHA:2063
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er...	OMIM:619322
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Microgn...	OMIM:259720
Metatropic Dysplasia	Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Jo...	ORPHA:2635
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal fin...	ORPHA:2658
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Recurrent pneumo...	OMIM:612301
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Unilateral radial aplasia, Tremor, Aplasia of the 1st metacarpal, ...	ORPHA:476126
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Bulbous nose, Decreased circulating antibody level,...	ORPHA:169079
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc...	OMIM:607594
Immunodeficiency 12	Abnormal lymphocyte count, Recurrent viral infections, Clubbing, Cheilitis, Osteoporosis, Recurre...	OMIM:615468
Proteus Syndrome	Thin bony cortex, Depressed nasal bridge, Splenomegaly, Mandibular hyperostosis, Calvarial hypero...	OMIM:176920
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Dentinogenesis imperfecta, Osteoporosis, Short philtrum	ORPHA:71267
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T...	ORPHA:53697
Grant Syndrome	Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Decreased skull ossifi...	ORPHA:2097
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, Failure to thrive, Pancytopenia, Depressed nasal bridge, Splenomegal...	OMIM:619824
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Craniosynostosis	ORPHA:178377
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car...	ORPHA:3238
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl...	OMIM:144750
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Sinusitis, Absence of lymph node germinal center, Recurrent opportunistic infections...	ORPHA:277
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye...	ORPHA:73
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
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent respiratory infectio...	ORPHA:667
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Pitt-Hopkins Syndrome	Short metatarsal, Finger clinodactyly, Short philtrum, Thickened helices, Micropenis, Anteverted ...	ORPHA:2896
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Obesity, Short foot, Short 5th finger, High palate, Clinodactyly, Short ...	OMIM:300577
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Craniosynostosis	OMIM:600252
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Small for gestational age, Micrognathia, Po...	ORPHA:397590
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candid...	ORPHA:572
48,Xxyy Syndrome	Hypoplasia of penis, Tremor, Abnormal shoulder morphology, Chronic otitis media, Clinodactyly of ...	ORPHA:10
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia...	ORPHA:2370
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Anteverted nares, Depressed nasal bridge, Recurrent upper respi...	OMIM:614069
Zimmermann-Laband Syndrome	Hallux valgus, Hepatomegaly, Wide nose, Abnormal external genitalia, Micrognathia, Splenomegaly, ...	ORPHA:3473
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Osteopor...	OMIM:184260
Chung-Jansen Syndrome	Anteverted nares, Impulsivity, Tapered finger, Micrognathia, Cryptorchidism, Aggressive behavior,...	OMIM:617991
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Recurrent viral infections, Decreased p...	OMIM:618048
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho...	ORPHA:90650
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Decreased c...	ORPHA:397596
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m...	OMIM:616022
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Micrognathia, Osteopetrosis, Decreased body weight, Clinodactyly ...	OMIM:617306
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased response to growth hormone stimulation test, Micrognath...	ORPHA:2980
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short metatarsal, Obesity, O...	OMIM:612463
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Immunodeficiency 51	Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Recurrent cutaneous fungal i...	OMIM:613953
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology...	ORPHA:1133
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Shyness, Tremor, Depressed nasal ridge...	ORPHA:96264
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad...	ORPHA:100024
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness...	ORPHA:566943
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val...	ORPHA:166272
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Cra...	OMIM:122860
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:277440
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Micrognathia, Tremor, Protruding ear, High palate, Short philtrum, Abnormal repe...	OMIM:618342
Pycnodysostosis	Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy...	ORPHA:763
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ...	ORPHA:53
Immunodeficiency With Hyper-Igm, Type 1	Oral ulcer, Gingivitis, Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG...	OMIM:308230
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Malar flattening, Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short...	OMIM:118651
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce...	ORPHA:158061
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology	OMIM:217150
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Metaphyseal widening, Craniofacial osteosclerosis, Increased skull os...	OMIM:618476
Diastrophic Dysplasia	Recurrent respiratory infections, Bowing of the long bones, Increased bone mineral density, Depre...	ORPHA:628
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinoph...	ORPHA:486
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Tremor, Depressed nasal ridge, Chronic...	ORPHA:96263
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Hepatomegaly, Persistenc...	ORPHA:2785
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor...	OMIM:174810
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid...	OMIM:620099
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M...	ORPHA:2863
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Prominent nose, Flexion contracture, Knee flexion contracture, Cryptorchidism, Oste...	OMIM:214150
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Reduced bone mineral density	OMIM:619489
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Recurrent viral infections, Anteverted nares, Depressed nasal bridge, Recurrent ear i...	ORPHA:221139
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis, Hepatomegaly	OMIM:618541
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl...	OMIM:113300
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow...	ORPHA:1423
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas...	OMIM:618987
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Depressed nasal bri...	OMIM:619736
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Increa...	ORPHA:37748
Whim Syndrome 1	Recurrent upper respiratory tract infections, Abnormal morphology of female internal genitalia, D...	OMIM:193670
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Elsahy-Waters Syndrome	Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Cutane...	OMIM:211380
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Depressed nasal bridge, Ca...	OMIM:612350
Kenny-Caffey Syndrome, Type 1	Carious teeth, Small hand, Short foot, Slender long bone, Recurrent bacterial infections, Short p...	OMIM:244460
Acrocephalopolydactyly	Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Limb undergrowth, Short nose, Brachyd...	ORPHA:221054
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent viral infections, Recurrent mycobacterial infections, ...	ORPHA:275
Coffin-Siris Syndrome 2	High palate, Short philtrum, Hyperactivity, Anteverted nares, Depressed nasal bridge, Short statu...	OMIM:614607
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Recurrent respira...	ORPHA:2484
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ...	OMIM:616005
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Low-set, ...	ORPHA:915
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, Oral ulcer, Chronic mucocutaneous...	OMIM:608971
Trisomy 9P	Dental crowding, Abnormal nasal morphology, Non-midline cleft lip, Impacted tooth, Downturned cor...	ORPHA:236
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Persistent EBV viremia, Recurrent sinusi...	OMIM:620282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo...	OMIM:102700
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Inflexible adherence to routines, Aggressive behav...	OMIM:613670
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Wide ...	OMIM:614078
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Trichorhinophalangeal Syndrome Type 2	Deep philtrum, Protruding ear, Conductive hearing impairment, Thick nasal alae, Low-set, posterio...	ORPHA:502
Pierpont Syndrome	Large fleshy ears, Widely spaced teeth, Short palm, Prominent fingertip pads, Micropenis, Short s...	OMIM:602342
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Prominent nose, Wide anterior fontanel, Patent ductus arteriosus, W...	OMIM:614886
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti...	OMIM:212050
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas...	ORPHA:420561
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Anteverted nares, Splenomegaly, Bulbous...	OMIM:616354
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathi...	ORPHA:163649
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Hennekam Syndrome	Abnormal oral mucosa morphology, Short philtrum, Finger syndactyly, Abnormal dental morphology, D...	ORPHA:2136
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Lymphocytosis, Autoimmune thrombocytopenia, Hepatosple...	ORPHA:911
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf...	ORPHA:331235
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Ollier Disease	Micromelia, Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multi...	ORPHA:296
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:264700
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Coxa valga, Splenomegaly, Patent ductus arteriosus, Joint stiffn...	OMIM:230600
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ...	ORPHA:3019
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm...	ORPHA:1277
11Q22.2Q22.3 Microdeletion Syndrome	Thin upper lip vermilion, Short attention span, Posteriorly rotated ears, Depressed nasal bridge,...	ORPHA:444002
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Hepatosplenomegaly, Increased propo...	OMIM:618982
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Joint stiffness, Narrow mouth, Bulbous nose, Thick lower lip ...	ORPHA:969
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Flared metaphysis,...	OMIM:218400
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Anteverted nares, ...	OMIM:272460
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto...	ORPHA:171839
Alazami-Yuan Syndrome	Thin upper lip vermilion, Hyperactivity, Broad hallux, Dental crowding, Prominent nasal bridge, P...	OMIM:617126
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Lymphadenopathy	OMIM:616126
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Neutro...	OMIM:271510
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Recurrent respiratory infections, Depressed nasal br...	ORPHA:2746
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis ...	OMIM:301078
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger...	ORPHA:137834
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Geni...	OMIM:602450
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Tremor, Obesity, Hypodontia, Limb dystonia, Bilateral coxa va...	OMIM:620270
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp...	OMIM:201000
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Oral ulcer, Recurrent candida infections, Increased circulating IgG l...	ORPHA:169154
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Failure to thriv...	OMIM:606367
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones...	OMIM:215045
Hermansky-Pudlak Syndrome 2	Periodontitis, Recurrent abscess formation, Neutropenia, Hepatomegaly, Wide nasal bridge, Hepatos...	OMIM:608233
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Abnormal dental en...	ORPHA:1798
Mannose-Binding Lectin Deficiency	Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent Klebsiella...	OMIM:614372
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, Arthritis, ...	OMIM:601457
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Hyperactivity, Hypospadias, Anteverted nares, Malar flat...	OMIM:614613
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Depressed nasal bridge, Short stature, Micrognathia, Cryptorch...	ORPHA:1695
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ...	ORPHA:1486
Gapo Syndrome	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Hig...	OMIM:230740
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati...	OMIM:243700
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, J...	ORPHA:2107
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Fraxe Intellectual Disability	Hyperactivity, Short stature, Prominent nasal bridge, Impulsivity, Aggressive behavior, Prominent...	ORPHA:100973
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu...	OMIM:300400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Elbow flex...	OMIM:616809
Immunodeficiency 33	Delayed eruption of teeth, Pneumocystis jirovecii pneumonia, Conical tooth, Increased circulating...	OMIM:300636
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp...	OMIM:618761
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis,...	OMIM:619718
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose, Long philtrum	OMIM:125700
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Sinusitis, Autoimmune hemolytic anemia, Impaired T cell function, Pure red cel...	OMIM:613179
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Depressed nasal bridge, Penile freckling, Large for gestational age, ...	OMIM:605309
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia...	OMIM:618986
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Clitoral hypertrophy, Extramedullary hematopoiesis, Hypoplastic ischia, ...	ORPHA:313855
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Mi...	ORPHA:93329
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short toe, Short metatarsal,...	OMIM:103580
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Hypoplasia of penis, Arachnodactyl...	ORPHA:1716
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Mandibular prognathia, Decreased fetal movement, Hyperactivity, Premature birth, Impulsivity, Mic...	OMIM:604317
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Restlessness, Sensorineural hearing impairment, Irritability, Hip dysplasia,...	OMIM:618379
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, Narrow mouth, Deep...	ORPHA:261120
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Clark-Baraitser Syndrome	Thin upper lip vermilion, Hyperactivity, Sandal gap, Exaggerated cupid's bow, Anteverted nares, D...	OMIM:617752
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Recurrent respiratory infections, Osteomyelitis, Eosinophi...	ORPHA:2314
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo...	ORPHA:811
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Clinodactyly, Downturned corners of mouth, High palate, Widely spaced teet...	ORPHA:369891
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph...	ORPHA:208441
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate...	OMIM:119600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, T lymphocytopenia, Narrow greater sciatic notch,...	ORPHA:508533
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone...	OMIM:618961
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Hypop...	ORPHA:633
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Osteomalacia, Micromelia, Recurr...	ORPHA:2176
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Neoplasm, Otitis media, Compulsive behaviors, Conductive hearing impairment, Abn...	ORPHA:353281
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal...	ORPHA:485405
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd...	ORPHA:2710
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Hypospadias, Cryptorchidism, Decreased circulating antibody level, Agamma...	OMIM:616910
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
C Syndrome	Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short ...	OMIM:211750
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections...	ORPHA:217390
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Hepatomegaly, Recurrent respiratory infections, Anteverted nares, Rhizomel...	ORPHA:1842
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Patent ductus arteriosus, Hip dislocation, Retrognathia, Wide nasal bridge, Joint con...	OMIM:618005
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane...	ORPHA:77297
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Anteverted nares, Prominent nasal bridge, Tapered fin...	OMIM:618825
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculopapular...	ORPHA:540
Spondyloepiphyseal Dysplasia, Nishimura Type	Recurrent respiratory infections, Delayed epiphyseal ossification, Osteoarthritis, Small hand, Co...	OMIM:618618
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, High palate, Short palm, Microdo...	OMIM:268400
Pycnodysostosis	Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ...	OMIM:265800
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Mandibular prognathia, Downturned corners of mouth, High palate, Low-set, poste...	ORPHA:1327
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp...	ORPHA:2741
Fetal Akinesia Deformation Sequence 4	Decreased fetal movement, Posteriorly rotated ears, Rocker bottom foot, Polyhydramnios, Micrognat...	OMIM:618393
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neutropenia, Microdonti...	ORPHA:221016
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadi...	OMIM:617053
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Recurrent respiratory infections, Aphthous ulcer, Increased circ...	OMIM:615767
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Anteverted nares, Wide mouth, Delayed eruption of pe...	OMIM:618506
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Iliac crest serration, Small for gestational age, Anteverted nares, Depressed nasal br...	OMIM:613320
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased body ...	OMIM:614450
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short philtrum, Conductive heari...	ORPHA:819
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Gardner Syndrome	Astrocytoma, Brain neoplasm, Congenital hypertrophy of retinal pigment epithelium, Papillary thyr...	ORPHA:79665
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Short stature, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotyp...	OMIM:309548
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Cryptorchidism, Deep philtrum, Bulbous nose, Wide n...	ORPHA:1237
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi...	OMIM:234100
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Oral ulcer, Sepsis, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, Hepatomegaly,...	OMIM:612541
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Anteverted nares, Depressed nasal bridge, Protruding tongue, Micrognathia, Increased c...	OMIM:242860
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
4H Leukodystrophy	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Decreased response to growth hormone st...	ORPHA:289494
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micrognathia, Epispadias, Abnormality of the gingiva, High, narrow palate, C...	ORPHA:3107
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Mulibrey Nanism	Hepatomegaly, Wide nose, Dental crowding, Depressed nasal bridge, Absent frontal sinuses, Enamel ...	OMIM:253250
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Decreased response to growth hormone stimulatio...	OMIM:241410
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Hypospadias, Short stature, Narrow mouth, Depressed nasal ridge, Abnormal oral ...	ORPHA:1355
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp...	OMIM:182250
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Large for gestational age, Short pr...	OMIM:616638
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Hyperactivity, Restlessness, Anteverted nares, Prominent nasal bridge, ...	OMIM:300558
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short metatarsal, Obesity, O...	OMIM:612462
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Decreased respon...	OMIM:614732
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared met...	OMIM:602557
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of...	OMIM:155050
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Periventricular Nodular Heterotopia 7	Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n...	OMIM:617201
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Micrognathia, Thrombocytopenia, Splenomegaly, Recurrent pne...	OMIM:170100
Achondrogenesis Type 1A	Short palm, Anteverted nares, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ...	ORPHA:93299
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Short stature, Camptodactyly of finger, Micrognathia, Optic atrophy, Protruding...	ORPHA:1495
Perlman Syndrome	Hypoplasia of penis, Posteriorly rotated ears, Anteverted nares, Nephroblastoma, Micrognathia, Cr...	ORPHA:2849
Autism Spectrum Disorder Due To Auts2 Deficiency	Prominent nasal tip, Hyperactivity, Anteverted nares, Short stature, Small for gestational age, M...	ORPHA:352490
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Cryptorchidism, Short nose, Unilambdoid synostosis, Wide nasal br...	OMIM:618577
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Precocious puberty, Narrow mouth, Short nose, Head-banging, Delay...	OMIM:619356
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co...	ORPHA:70578
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent shingles, Recurrent upper respiratory tract infections, R...	OMIM:615518
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Cleft palate, Mesomelia, Thin vermilion border...	ORPHA:2631
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn...	ORPHA:177
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Microdontia, Decreased circulating IgG ...	OMIM:620005
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt...	ORPHA:77259
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Anteverted nare...	OMIM:616331
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Short foot, Talipes...	ORPHA:93298
Nance-Horan Syndrome	Mandibular prognathia, Retinal detachment, Short metacarpal, Prominent nasal bridge, Abnormality ...	ORPHA:627
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Ohdo Syndrome	Small scrotum, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Cryptorchid...	OMIM:249620
Atelosteogenesis, Type Ii	Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around...	OMIM:256050
Diastrophic Dysplasia	Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ...	OMIM:222600
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Facial capillary hemangioma, Aplasia of the distal phalanx of the 5th...	ORPHA:364577
Cranio-Osteoarthropathy	Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger...	ORPHA:1525
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim...	ORPHA:2796
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short ...	OMIM:619148
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Anteverted nares, Decreased...	OMIM:616897
Lethal Osteosclerotic Bone Dysplasia	Posteriorly rotated ears, Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibroma...	ORPHA:1832
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced teeth, Advanced eruption of...	ORPHA:192
Chromosome 3Q29 Deletion Syndrome	Thin upper lip vermilion, Hyperactivity, Failure to thrive, Posteriorly rotated ears, Prominent n...	OMIM:609425
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Protruding ear, Downt...	OMIM:156200
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Antevert...	ORPHA:50945
Immunodeficiency, Common Variable, 8, With Autoimmunity	Generalized lymphadenopathy, Sepsis, Decreased circulating IgG level, Autoimmune thrombocytopenia...	OMIM:614700
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Gapo Syndrome	Mandibular prognathia, Dysmenorrhea, Micrognathia, Thick nasal alae, Anteverted nares, Depressed ...	ORPHA:2067
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Clinodactyly of th...	ORPHA:2108
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Multiple exostoses, Underdeveloped nasal alae, Wide nasal bridge...	OMIM:601224
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Short attention span, Failure to thrive, Broad nasal tip, Overweight, Repe...	ORPHA:391372
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ...	ORPHA:166002
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop...	OMIM:619164
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Thin upper lip vermilion, Slender nose, Micrognathia, ...	OMIM:615419
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Brachydactyly, Anteverted nares, Short stature, Carious teeth,...	ORPHA:2701
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Decreased re...	OMIM:307200
Schwartz-Jampel Syndrome	Polyhydramnios, Micrognathia, Coxa vara, High palate, Decreased body weight, Low-set, posteriorly...	ORPHA:800
Cri-Du-Chat Syndrome	Short metatarsal, Orofacial cleft, Downturned corners of mouth, High palate, Short philtrum, Abno...	OMIM:123450
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Bilateral cryptorchidism, Hypoplasia of the maxilla, Sho...	OMIM:305400
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per...	ORPHA:46627
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Abnormality of the dentition, Cryptorchidism, Postaxial hand polyda...	ORPHA:1702
Fetal Hydantoin Syndrome	Bifid scrotum, Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Abnormal pinna morp...	ORPHA:1912
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
12Q14 Microdeletion Syndrome	Wide nose, Prominent nasal bridge, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Down...	ORPHA:94063
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Marshall-Smith Syndrome	Bowing of the long bones, Failure to thrive, Anteverted nares, Choanal atresia, Craniosynostosis,...	ORPHA:561
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Tremor, Micropenis, Hyperactivity, Hypospadias, Depressed nasal bridge, Sh...	OMIM:300354
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing...	ORPHA:221008
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Bulbous nose, Small ha...	ORPHA:1787
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te...	OMIM:257850
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula...	ORPHA:3243
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, External genital hypoplasia, Convex nasal ridge, Micrognathia, Polyphagia, Tibia...	ORPHA:251028
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Infectious encephalitis, Depressed nasal bridge, Pa...	ORPHA:354
Trichothiodystrophy 3, Photosensitive	Natal tooth, Lymphopenia, Increased circulating IgA level, Carious teeth, Bilateral cryptorchidis...	OMIM:616395
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb...	OMIM:614470
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Thin upper lip vermilion, Wide nasal bridge, Micropenis, T lymphocytopenia, B lymphocytopenia, Re...	OMIM:615966
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Recurrent upper res...	ORPHA:508542
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Autosomal Dominant Omodysplasia	Short palm, Short humerus, Bifid scrotum, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia...	ORPHA:93328
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Hearing impairment, Microgn...	OMIM:613604
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Tremor, Bifid nasal tip, Optic atr...	OMIM:300983
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Anteverted nares, Sagittal craniosynostos...	OMIM:145420
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Long nose, Clinodactyly, High palate, Shor...	OMIM:615866
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Acute Lung Injury	Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circul...	ORPHA:178320
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C...	OMIM:619797
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:241530
Familial Adenomatous Polyposis 1	Astrocytoma, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Medulloblastoma, Fibro...	OMIM:175100
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Sho...	OMIM:618363
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Thickened nuchal skin fold, Hypoplasia of penis, Small scrotum, Posteriorly rotated ears, Camptod...	ORPHA:2083
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Polyhydramnios, Micrognathia, Deep philtrum, High palate, Exaggerated...	OMIM:619833
Acrocraniofacial Dysostosis	Anteverted nares, Choanal atresia, Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Pr...	ORPHA:949
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal brid...	OMIM:241800
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Coffin-Siris Syndrome 3	Joint laxity, Wide nose, Anteverted nares, Depressed nasal bridge, Short distal phalanx of the 5t...	OMIM:614608
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Momo Syndrome	Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus...	ORPHA:2563
Vici Syndrome	Micrognathia, Recurrent viral infections, Leukopenia, T lymphocytopenia, Abnormal thymus morpholo...	OMIM:242840
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial...	ORPHA:169090
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th...	OMIM:613026
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Cryptorchidism, De...	ORPHA:3121
Lead Poisoning	Anorexia, Abnormal T cell morphology, Decreased male libido, Premature birth, Depression, Cogniti...	ORPHA:330015
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial ...	OMIM:613496
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve...	OMIM:300755
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Polyhydramnios, Facial capillary ...	ORPHA:818
Achondrogenesis	Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Abnormality of bone...	ORPHA:932
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, M...	OMIM:300863
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m...	ORPHA:1427
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio...	OMIM:215140
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Anterior pituitary hypopla...	OMIM:619841
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Micropenis, Bifid uvula, ...	ORPHA:96170
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Cleft palate, Malar fl...	ORPHA:2145
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Polyhydramnios, Micrognathia, High palate, Otitis media, Compulsive behaviors, C...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Polyhydramnios, Micrognathia, High palate, Otitis media, Compulsive behaviors, C...	ORPHA:353277
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Abnormal cortical bone morphology	ORPHA:2512
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Si...	ORPHA:2250
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Prominen...	OMIM:210600
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Anteverted nares, Depressed nasal bridge, Tapered finger, Supernumerary tooth, Patent ductus arte...	ORPHA:86818
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Depressed nasal ri...	ORPHA:99843
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Congenital hypertrophy of retin...	ORPHA:733
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Everted lower lip ...	ORPHA:181
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, 11 pairs of ribs, Sandal gap, Dental crowding, Anteverted n...	OMIM:617877
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,...	ORPHA:2751
Neuronal Intestinal Pseudoobstruction	Natal tooth, Patent ductus arteriosus	ORPHA:99811
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Sepsis, Short philtrum, Abnormal bone ossification, Cl...	ORPHA:79324
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario...	OMIM:617102
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Abnormal morphology of uln...	ORPHA:93
Three M Syndrome 2	Delayed eruption of teeth, Prominent nasal tip, Small for gestational age, Anteverted nares, Depr...	OMIM:612921
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Femoral bowing, Short 5th metacarpal, Short 4th metacarpal, Broad thumb, Thin bony co...	OMIM:619638
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement o...	OMIM:620370
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Recurrent bacterial infections, Short philtrum, Neutropenia, Clinodactyly,...	OMIM:603585
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Immunodeficiency 43	Hypoplasia of the ulna, Recurrent respiratory infections, Radial bowing, Decreased specific antib...	OMIM:241600
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Depressed nasal ridge,...	OMIM:248500
17P13.3 Microduplication Syndrome	Hypoplasia of penis, Congenital hip dislocation, Wide nose, High palate, Low-set ears, Narrow mou...	ORPHA:217385
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Microg...	ORPHA:235
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Small for gestational age, Micrognathia, Underdeve...	OMIM:269880
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Micrognathia, Prominent no...	ORPHA:363528
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Neutropenia, Abno...	ORPHA:175
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Hepatomegaly, Recurrent respiratory infections, External ge...	ORPHA:329178
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ri...	ORPHA:2831
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Limited...	OMIM:180870
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Sandal gap, Macrodontia, Hyperactivity, Short st...	ORPHA:228402
Rubinstein-Taybi Syndrome 2	Micrognathia, Prominent nose, High palate, Prominent fingertip pads, Posterior helix pit, Syndact...	OMIM:613684
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Failure to thrive, Anteverted nares, Short stature, Cleft upper lip, Po...	OMIM:243310
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Spina bifida occul...	OMIM:193700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, Decr...	ORPHA:183675
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Anteverted nares, ...	ORPHA:2616
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Kleefstra Syndrome 1	Mandibular prognathia, U-Shaped upper lip vermilion, Brachydactyly, Natal tooth, Hypospadias, Abn...	OMIM:610253
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Short stature, Tremor, Hip...	OMIM:614381
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Genu valgum, Downturned corners of mouth, Reduced bone minera...	ORPHA:2983
Acromicric Dysplasia	Short metacarpal, Severe short stature, Anteverted nares, Narrow mouth, Deep philtrum, Thick lowe...	OMIM:102370
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Sp...	OMIM:235510
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Short stature, Micrognathia, Cryptorchidism, Long penis, A...	ORPHA:1988
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Short stature, Depressed nasal ridge...	ORPHA:1816
Bloom Syndrome	Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Prominent nose, Cryptorchidism, R...	OMIM:210900
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, High palate, Long philtrum, Short nose, Anemia	ORPHA:2598
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Recurrent respiratory infections, Abscess, Eosinophilia, Allergic ...	OMIM:615816
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Premature birth, Depressed nasal ...	ORPHA:2256
Sotos Syndrome	Mandibular prognathia, High, narrow palate, Increased body weight, High palate, Otitis media, Con...	OMIM:117550
Lowry-Maclean Syndrome	Osteopenia, Short nasal bridge, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, ...	ORPHA:2409
Peho-Like Syndrome	Open mouth, Retrognathia, Short nose, Tapered finger	OMIM:617507
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Micrognathia, Tremor, Oligodontia, High palate, Short philtrum, Compulsive behav...	OMIM:617061
Stickler Syndrome Type 1	Retinal detachment, Hypoplasia of the maxilla, Sensorineural hearing impairment, Abnormal vitreou...	ORPHA:90653
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Failure to thrive, Hypospadias,...	ORPHA:2315
Dubowitz Syndrome	Aplastic anemia, Micrognathia, Protruding ear, High palate, Otitis media, Clinodactyly of the 5th...	OMIM:223370
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, Short nasal sept...	OMIM:302950
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Hearing impairment, Choanal atresia, Myelomeningocele, ...	ORPHA:1914
Poikiloderma With Neutropenia	Joint laxity, Depressed nasal bridge, Micrognathia, Carious teeth, Splenomegaly, Underdeveloped n...	OMIM:604173
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Dental crowding, Uplifted earlo...	OMIM:300143
Brachycephaly, Trichomegaly, And Developmental Delay	Depressed nasal bridge, Short stature, Conductive hearing impairment, Supernumerary tooth, Submuc...	OMIM:617412
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Short palm, Jo...	OMIM:601812
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,...	OMIM:311200
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Short stature, Prominent nasal bridge, Micrognathia, Bilateral cryptorc...	OMIM:613544
Faciocardiomelic Syndrome	Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Large for gestational age, De...	OMIM:612731
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior, Low-set ears	ORPHA:436151
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal t...	ORPHA:666
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T...	OMIM:603554
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent bacterial infection...	OMIM:612783
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost...	OMIM:604757
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Preaxial hand polydactyly...	ORPHA:210548
Prader-Willi Syndrome Due To Translocation	External genital hypoplasia, Decreased response to growth hormone stimulation test, Anterior pitu...	ORPHA:177907
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i...	OMIM:614172
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Ulnar deviation o...	ORPHA:1895
X-Linked Intellectual Disability, Van Esch Type	Failure to thrive, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circu...	ORPHA:163976
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Distal Deletion 12Q	Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Cl...	ORPHA:96149
Fetal Akinesia Deformation Sequence 1	Polyhydramnios, Micrognathia, Fetal akinesia sequence, High, narrow palate, High palate, Prematur...	OMIM:208150
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Acrofacial Dysostosis, Catania Type	Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Hypospadias, Premature b...	ORPHA:1786
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Long philtrum, Anteverted...	ORPHA:391408
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph...	OMIM:618108
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Polyhydramnios, Amniotic constriction ring, Downturned corners of mouth, Capillary...	ORPHA:2215
Immunodeficiency 19	Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp...	OMIM:615617
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral fre...	OMIM:617088
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Intellectual Developmental Disorder, Autosomal Dominant 26	Prominent nasal tip, Hyperactivity, Anteverted nares, Depressed nasal bridge, Short stature, Micr...	OMIM:615834
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Thin bony cortex, Dental crowding...	OMIM:309583
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, D...	OMIM:255800
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Prematur...	OMIM:615873
Hypophosphatasia, Infantile	Recurrent respiratory infections, Craniosynostosis, Abnormality of the dentition, Bowing of the l...	OMIM:241500
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented upper lip vermilio...	OMIM:616723
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Prominent nasal bridge, Craniosynostosis, Micrognathia, Abse...	ORPHA:96097
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic p...	OMIM:614524
Dpm1-Cdg	Hepatomegaly, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, External genital hy...	ORPHA:79322
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Anteverted nares, ...	OMIM:607812
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Small for gestational age, Short nose, Short stature, Attention deficit hyperactivity disorder	OMIM:245570
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Choanal stenosis, Microdontia, Long...	OMIM:259775
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Widel...	ORPHA:268261
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Prominent nose, Coxa vara, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Mi...	ORPHA:2637
Den Hoed-De Boer-Voisin Syndrome	Tremor, Ventouse delivery, Widely spaced teeth, Decreased body weight, Abnormal repetitive manner...	OMIM:619229
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Finger syndactyly, Delayed eruption of teeth, Hypospadias, Cam...	ORPHA:568
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Bainbridge-Ropers Syndrome	Dental crowding, Polyhydramnios, Micrognathia, Contracture of the proximal interphalangeal joint ...	OMIM:615485
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Micropenis, Premature bir...	OMIM:609029
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Mesenteric cyst, Recurrent respiratory infections, Overlappin...	OMIM:618316
Gand Syndrome	Long toe, Thin upper lip vermilion, Hyperactivity, Broad nasal tip, Long fingers, Wide nasal brid...	OMIM:615074
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Elbow contracture, Patent ductus arteriosus, Annular pancreas, 2-3...	OMIM:618162
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Clitoral hypoplasia, Short palm, Micro...	OMIM:268310
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi...	ORPHA:1529
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Long nose, Self-biting, Downturned corners of ...	OMIM:300912
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Impulsivity, Micrognathia, Precocious puberty, Long fingers, Cryptorchidism, Hi...	ORPHA:96092
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Hyperactivity, Short stature, Underdeveloped nasal alae, Cryptorchidism...	ORPHA:412035
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Recurrent respiratory infections, Cachexia, Postaxial hand polydactyly, Long p...	ORPHA:1389
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate...	OMIM:268305
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Postural tremor, Hypogonadotropic hypogonadism, Short stature, Optic a...	ORPHA:447896
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Lymphadenitis, Recurrent mycobacterial infections, BCGo...	ORPHA:319552
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Lymphadenopat...	ORPHA:2905
Hsd10 Disease	Short attention span, Tremor, Postnatal growth retardation, Optic atrophy, Choreoathetosis, Dysph...	ORPHA:391417
Sanjad-Sakati Syndrome	Hypoparathyroidism, Recurrent respiratory infections, Hypoplasia of penis, Depressed nasal bridge...	ORPHA:2323
Ck Syndrome	Long toe, Microretrognathia, Hyperactivity, Posteriorly rotated ears, Dental crowding, Prominent ...	ORPHA:251383
Stuve-Wiedemann Syndrome 1	Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue, Short tibia...	OMIM:601559
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Thin upper lip vermilion, Hyperactivity, Hypospadias, Optic nerve hypoplasia, Depressed...	ORPHA:363686
Baker-Gordon Syndrome	Thin upper lip vermilion, Choreoathetosis, Self-injurious behavior, Dystonia, Prominent nasal tip...	OMIM:618218
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Tibial bowing, H...	OMIM:269150
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Clitoral hypertrophy, Small scrotum, Wide nose, Promi...	ORPHA:85201
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micrognathia, High, narrow palate, Downturned corners of mouth, Wide...	OMIM:122470
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Failure to thrive...	OMIM:619693
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Cachexia, Abnormal soft pa...	ORPHA:884
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen...	OMIM:301040
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Short stature, Growth delay, Long philtrum, Sho...	ORPHA:438178
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Decreased response to growth hormo...	OMIM:616007
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of...	OMIM:250460
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru...	ORPHA:952
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Truncal obesity, Everted lower lip v...	ORPHA:2429
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Coffin-Siris Syndrome 7	Severe temper tantrums, Polyhydramnios, Downturned corners of mouth, Short philtrum, Compulsive b...	OMIM:618027
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Sple...	OMIM:612714
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Ante...	ORPHA:2510
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proxi...	OMIM:300166
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Cholangitis, Persistent CMV viremia, Leukocyt...	OMIM:619652
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Thin upper lip vermilion, Hyperactivity, Abnormal pinna morphology, Short stature,...	OMIM:614104
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses...	OMIM:619269
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Hyperactivity, Short stature, Prominent nose, Anteverted ears, Aggressive behavior...	OMIM:615541
Smith-Magenis Syndrome	Mandibular prognathia, Retinal detachment, Everted upper lip vermilion, Hyperactivity, Short stat...	OMIM:182290
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Depressed nasal bridge, Hip dislocation, Hepatosplenomegaly, Wide mouth, Long philt...	OMIM:608776
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Reduced bone mineral density, Downturned corners of mouth, Slender long bone, J...	ORPHA:1185
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue nodules, Postaxial foot pol...	OMIM:258850
Coffin-Siris Syndrome	Clinodactyly, Papillary thyroid carcinoma, Hepatoblastoma, Intrauterine growth retardation, Thick...	ORPHA:1465
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, High palate, Ti...	OMIM:616364
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Depressed nasal bridge, Short stature, Cryptorchidism, Bulimia, Recurrent uppe...	ORPHA:314389
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Hyperactivity, Ne...	ORPHA:77301
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Small for gestational a...	OMIM:615583
Down Syndrome	Joint laxity, Sandal gap, Depressed nasal bridge, Protruding tongue, Abnormality of the dentition...	ORPHA:870
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ...	OMIM:601957
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decr...	ORPHA:1855
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Depressed nasal bridge, Broad nasal tip, Meta...	ORPHA:2804
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Prominent nasal b...	ORPHA:401935
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito...	ORPHA:97360
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss...	OMIM:166210
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia	OMIM:601345
3C Syndrome	Hypoplasia of penis, Micrognathia, High, narrow palate, Orofacial cleft, Chorioretinal coloboma, ...	ORPHA:7
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Tapered f...	ORPHA:251071
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Joint stiffness, Limitation of ...	ORPHA:1801
Kagami-Ogata Syndrome	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:608149
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Abnormal hand bone ossifi...	OMIM:200600
Fg Syndrome Type 1	Dental crowding, Micrognathia, Prominent nose, Fused teeth, High palate, Compulsive behaviors, Ab...	ORPHA:93932
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	OMIM:309520
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Multiple joint contractures, Small for gestational age, Sel...	ORPHA:2959
Achondroplasia	Anteverted nares, Depressed nasal bridge, Rhizomelia, Hip joint hypermobility, Bowing of the legs...	ORPHA:15
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Posteriorly rotated ears, Sa...	OMIM:618430
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Synostosis...	ORPHA:289
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Failure to thrive in infancy, Oligoarthritis, Pers...	OMIM:619510
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79444
19P13.3 Microduplication Syndrome	Micrognathia, Prominent nose, Short philtrum, Hyperactivity, Precocious puberty, Microtia, Thick ...	ORPHA:447980
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Conductive hearing impai...	OMIM:600373
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Depressed nasal bridge, Tongue thrusting, Pica, Downturned corners of mouth, Stere...	OMIM:617865
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Tremor, Ivory epiphyses of the phalanges of the hand, Squa...	OMIM:216400
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Attached earlobe, Short stature, Micrognathia, Diastema, Patchy atrophy of the retinal pigment ep...	ORPHA:436245
20Q11.2 Microduplication Syndrome	Bifid scrotum, Tented upper lip vermilion, Short palm, Abnormal nasal bridge morphology, Clinodac...	ORPHA:363659
Congenital Disorder Of Glycosylation, Type Iig	Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Hypospadias, Anteverted n...	OMIM:611209
Donnai-Barrow Syndrome	Retinal detachment, Posteriorly rotated ears, Retinal dystrophy, Depressed nasal bridge, Wide ant...	ORPHA:2143
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Small for gestational...	OMIM:616229
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Bifid nasal tip, Depressed nasal ridge,...	OMIM:616854
Distal Deletion 10Q	Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Hig...	ORPHA:96148
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Miscarriage, Small for gestational age, Proporti...	ORPHA:439167
Intellectual Developmental Disorder, Autosomal Dominant 52	Prominent nose, Bilateral cryptorchidism, Pica, Downturned corners of mouth, High palate, Short p...	OMIM:617796
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Dental crowding, Anteverted nares, Depressed nasal bridge, Mi...	OMIM:619005
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, 2-3 toe syndactyly, Downturne...	OMIM:613443
Duplication Of The Pituitary Gland	Encephalocele, Short stature, Polyhydramnios, Supernumerary tooth, Abnormal pituitary gland morph...	ORPHA:314621
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, At...	OMIM:620292
Lamb-Shaffer Syndrome	Hyperactivity, Mild postnatal growth retardation, Micrognathia, Broad nasal tip, Optic atrophy, H...	ORPHA:530983
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Short stature, Rhizomelia, Micrognathia, Metaphyseal chondrodysplas...	ORPHA:163966
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Thin upper lip vermilion, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hyp...	ORPHA:1295
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Wide nose, B...	OMIM:600430
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Narrow mouth, Aggressive behavior, Retrognathia, Narrow palate, Hyp...	OMIM:620250
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Thin upper lip vermilion, Hyperactivity, Anteverted nares, Prominent nasal brid...	OMIM:616977
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Hyperactivity, Toe syndactyly, Abnormal pinna morphology, Camptodactyly of fin...	ORPHA:261211
Congenital Disorder Of Glycosylation, Type Iiw	Hepatic steatosis, Hepatomegaly, Wide nose, Micrognathia, Microcytic anemia, Thrombocytopenia, Su...	OMIM:619525
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short...	ORPHA:163654
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Hepatomegaly, Portal ...	ORPHA:79124
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Broad nasal tip, Precocious puberty, Cryptorchi...	ORPHA:3306
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, A...	OMIM:601853
Nicolaides-Baraitser Syndrome	Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, ...	OMIM:601358
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Short stature, Anorexia, Aggressive behavior, Tremor, Abnormal fea...	ORPHA:3077
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo...	ORPHA:56304
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Tapered finger, Flexion contracture, Sepsis, Hyperextensibility at wrists, H...	ORPHA:544503
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Wiedemann-Steiner Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ...	OMIM:605130
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Cortical subpe...	ORPHA:94089
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Death in infancy, Generalized dystonia, Choreoathetosis, Agitation, Ma...	OMIM:272300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ...	OMIM:615398
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Downturned corners of mou...	ORPHA:261494
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, A...	ORPHA:2753
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars...	OMIM:609945
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Cryptorchidism,...	ORPHA:1865
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Small scrotum, Micrognathia, Prominent nose, 2-3 toe cutaneous syndac...	OMIM:609625
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Hepatomegaly, Abnormality of the philtrum, Micromelia, Abnormal ...	ORPHA:1597
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, High palate, Advanced eruption of teeth, Enlarged ovaries...	ORPHA:769
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Recurr...	OMIM:214500
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Flexion contracture, Genu valgum, Irregu...	ORPHA:263463
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, External genital hypoplasia, Patellar hypoplasia, High p...	ORPHA:3041
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233710
Neu-Laxova Syndrome 1	Polyhydramnios, Micrognathia, Swollen lip, Fetal akinesia sequence, Calcaneovalgus deformity, Dep...	OMIM:256520
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Severe temper tantrums, T...	OMIM:619854
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ...	OMIM:242700
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Dysphagia, Death in adolescence, Short long bone, Stillbirth, Camptodac...	OMIM:619751
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Micrognathia, ...	ORPHA:453510
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Neonatal death, Microp...	OMIM:146510
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, M...	OMIM:614744
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Atelosteogenesis, Type I	Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Encephalocele, Sho...	OMIM:108720
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri...	ORPHA:93325
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Overweight, Patent ductus arteriosus, Recurrent up...	OMIM:619769
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ...	ORPHA:52368
Endocrine-Cerebroosteodysplasia	Small scrotum, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Sex reversal, Micro...	OMIM:612651
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Limitation ...	ORPHA:2547
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Antevert...	OMIM:618529
Adnp Syndrome	Oral-pharyngeal dysphagia, Abnormal finger morphology, Protruding ear, Compulsive behaviors, Adva...	ORPHA:404448
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnorma...	ORPHA:2639
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, High, narrow palate, Femoral bowing, Abnormal ovarian mo...	ORPHA:95699
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Rec...	OMIM:618590
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul...	OMIM:616580
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233690
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Thickened helices, Optic nerve hypoplasia, Prominent nasal bridge, Bulbou...	OMIM:618828
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Obesity, Genu valgum, Joint hyperflexib...	ORPHA:1035
Diamond-Blackfan Anemia 8	Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose,...	OMIM:612563
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent tonsillitis, Recurrent pneumonia	OMIM:613779
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Anteverted nares, Choanal atresia, Rec...	ORPHA:83
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Whim Syndrome	Sinusitis, Severe periodontitis, Lymphadenitis, Recurrent upper respiratory tract infections, Rec...	ORPHA:51636
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Optic atrophy, Hip d...	ORPHA:496790
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Preaxial polydactyly, Narrow greater sciatic notch, Absent nasal bridge, Short tibi...	OMIM:617925
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micromelia, Flexion c...	OMIM:610015
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress...	ORPHA:93258
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Joint stiffness, Joint hyperflexibility, Acrome...	ORPHA:40
Hereditary Geniospasm	Abnormal lower lip morphology, Abnormal social behavior, Intention tremor	ORPHA:53372
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Micromelia, Cryptorchidism, Hypogonadism	ORPHA:85173
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Hepatomegaly, Depressed nasal bridge, Joint stif...	OMIM:253200
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max...	OMIM:302350
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno...	ORPHA:3353
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Down...	OMIM:617052
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Narrow nasal ridge, Micrognathia, Flexion contracture, Hypoplasia of teeth, High...	OMIM:608612
Stankiewicz-Isidor Syndrome	Hyperactivity, Hypospadias, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Prominent no...	OMIM:617516
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Thick lower lip vermilion, Split hand, Rec...	OMIM:309900
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Micrognathia, Micropenis, Hypospadias, Anteverted nares, Depressed nasal bridge, S...	OMIM:257300
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Reduced bone mine...	ORPHA:828
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Cleft upper lip, Depressed nasal ridge, Cleft palate, Anh...	OMIM:613885
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal...	ORPHA:167
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Furrowed tongue, Ulnar deviation of finger, Truncal obesity,...	ORPHA:2928
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Cleft maxillary alveolar...	ORPHA:508488
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Wide nasal br...	OMIM:157980
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Hepatomegaly, Hamartoma of tongue, Short toe, P...	OMIM:269860
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Hepatomegaly, Recurrent respiratory infections, Tented upper lip vermilion, ...	OMIM:619383
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi...	ORPHA:534
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ...	OMIM:610829
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Posteriorly rotated ears, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Bulbous ...	OMIM:613870
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Protruding ear, High palate, Low ...	OMIM:300534
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Posteriorly rotated ears, Thick nasal alae, Micrognathia, Dysphagia, Undetectable visual evoked p...	ORPHA:163961
Peroxisomal Acyl-Coa Oxidase Deficiency	Death in infancy, Depressed nasal bridge, Sensorineural hearing impairment, Optic atrophy, Hand p...	ORPHA:2971
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Short stature, Short columel...	OMIM:300867
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Abnormal upper lip morphology, Short nose, Anteverted nares	ORPHA:531
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Postnatal growth r...	OMIM:614225
Microcephaly-Capillary Malformation Syndrome	Wide nose, Short stature, Small for gestational age, Hearing impairment, Hypoplasia of the maxill...	OMIM:614261
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Micrognathia, Absent thumb, Aplasia/Hypoplas...	ORPHA:1234
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Dysgammaglobulinemia, Choanal atresia, Microg...	OMIM:251260
Lathosterolosis	Bilobate gallbladder, Micrognathia, High palate, Ambiguous genitalia, male, Thick upper lip vermi...	OMIM:607330
Meier-Gorlin Syndrome 6	Decreased response to growth hormone stimulation test, Depressed nasal ridge, Conductive hearing ...	OMIM:616835
Geleophysic Dysplasia 1	Short palm, Osteopenia, Hepatomegaly, Anteverted nares, Camptodactyly of finger, Coxa valga, Join...	OMIM:231050
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Cockayne Syndrome B	Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, ...	OMIM:133540
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Malar fl...	OMIM:600972
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Choanal stenosis, Micropenis, Pancre...	ORPHA:83617
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Bulbous...	OMIM:616788
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Generalized osteosclerosis,...	OMIM:602398
Incontinentia Pigmenti	Orofacial cleft, Spina bifida occulta, Finger syndactyly, Abnormal chorioretinal morphology, Abno...	ORPHA:464
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Long penis, Wide nasal bridge, Long philtrum, Short nose	OMIM:190440
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Optic atrophy, Hip dysplasia, Dystonia, Short nose	OMIM:617183
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp...	ORPHA:1803
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr...	OMIM:239000
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Optic nerve hypoplasia, Short philtrum, Open mouth, Abnormal re...	ORPHA:228384
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Sepsis, Short philtrum, Joint contracture of the 5th finger, Clinodactyly of the 5th ...	ORPHA:363611
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly,...	ORPHA:79113
De Barsy Syndrome	Congenital hip dislocation, Coxa vara, Premature rupture of membranes, High palate, Short stature...	ORPHA:2962
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Polyhydramnios, Micrognathia, Downturned corners of mouth, Choanal stenosis, Seve...	OMIM:620186
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Calcaneal epiphyseal stippling, Thick nasal alae, Broad nasal t...	ORPHA:79345
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligodontia, Short philtrum, Compul...	ORPHA:2044
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Short stature, Uplifted earlobe, Tapered finger, Precocious puberty, Abnormality of ...	ORPHA:261652
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Posteriorly rotated ears, Polyhydramnios, Micrognathia, Underdevelope...	OMIM:263210
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tapered f...	OMIM:218000
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo...	ORPHA:429
Cornelia De Lange Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Downturned corners of mouth, Wide...	ORPHA:199
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Small for gestational ...	ORPHA:3078
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta	ORPHA:1514
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Decreased fetal movement, Posteriorly rotate...	OMIM:247200
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, Clinodactyly, High palate, Micropenis, Anteverted nares, Depressed nas...	OMIM:608156
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
3Q29 Microdeletion Syndrome	Failure to thrive, Hypospadias, Dental crowding, Prominent nasal bridge, Tapered finger, Abnormal...	ORPHA:65286
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit...	OMIM:224400
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Prominent nose, Tremor, High palate, Short philtrum, Short palm, Clinodactyl...	ORPHA:85293
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Hepatic fibrosis, Microdontia, Synd...	OMIM:614091
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl...	OMIM:609616
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Dental crowding, Sandal gap, Narrow nose, Carious teeth, Cryptorchidism, Long nos...	OMIM:617602
Trisomy 20P	Micrognathia, Protruding ear, Downturned corners of mouth, Short philtrum, Microdontia, Low-set, ...	ORPHA:261318
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Delayed eruption of teeth, Hepato...	OMIM:135500
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Microphallus, Compulsi...	OMIM:618454
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Peripheral retinal avascularization, Tented upper lip vermilion, External ...	ORPHA:96334
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Polyhydramnios, Cryptorchidism, Obesity, Short long bone, Rod-cone dystrop...	OMIM:615633
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Anteverted nares, Cleft upper lip, Precocious puberty, Aggressive behavior, Bulbou...	OMIM:300958
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Broad nasal tip, Small hand, Retrognathia, Broad columella, Depressed nasal tip, Shor...	ORPHA:488434
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle...	ORPHA:261236
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Micrognathia, Progressive neurologic deterioration, Opisthotonus, Neonatal death,...	OMIM:608013
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Flattened femoral head, Cherry red spot of the macula, Intrauterine growth retar...	ORPHA:79255
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Arachnodactyly, Dental crowding, Narrow mouth, Long philtrum, High palate, Bilatera...	OMIM:615539
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo...	OMIM:618727
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Posteriorly rotated ears, Depressed nasal bridge, Broad na...	OMIM:222448
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax...	OMIM:619143
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, High palate, Thick upper lip vermilion, Anteverted nares...	ORPHA:560
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, High, narrow palate, Protruding ear, Short philtrum, High palate, Chorioretinal co...	OMIM:619475
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint laxity, Anteverted nares, Monkey wrench femoral neck, Depressed nasal br...	OMIM:618870
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Diastem...	OMIM:619142
Fetal Trimethadione Syndrome	Hypospadias, Depressed nasal bridge, Micrognathia, High palate, Abnormal helix morphology, Low-se...	ORPHA:1913
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Severe short stature, Posteriorly rotated ears...	OMIM:224410
Weill-Marchesani Syndrome 1	Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Patent duct...	OMIM:277600
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ...	OMIM:309350
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hepatomegaly, Osteoporosis,...	ORPHA:79259
Acrofrontofacionasal Dysostosis	Bifid scrotum, Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cle...	ORPHA:1784
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc...	OMIM:610163
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa...	ORPHA:1200
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Choanal ste...	ORPHA:798
Charge Syndrome	Bifid scrotum, Polyhydramnios, Abnormal tibia morphology, Hypoplasia of the semicircular canal, C...	ORPHA:138
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Low-set ears, Long philtru...	OMIM:616420
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Premature birth, Depressed nasal bridge, Micrognathia, Breech presentation, Bilatera...	OMIM:617802
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Short attention span, Hyperactivity, Sandal gap, Posteriorly rotated ears, Short stature, Tapered...	OMIM:618089
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Natal tooth, Overlapping toe, Anteverted nares, Craniosynostosis, Depressed nasal ...	OMIM:123790
Trisomy 18	Pointed helix, Low-set, posteriorly rotated ears, Microretrognathia, Short stature, Spina bifida,...	ORPHA:3380
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Micropenis, Short phalanx of fing...	OMIM:616894
Warburg Micro Syndrome 3	Small scrotum, Micrognathia, Postnatal growth retardation, Hypoplastic labia minora, Optic atroph...	OMIM:614222
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Polyhydramnios, Choanal atresia, Bilateral cryptorchidi...	OMIM:619859
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Tooth malposition, Micropenis...	OMIM:616541
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Premature ovarian insufficiency, Short stature, Abnormality of the dentition, Prom...	ORPHA:391307
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Natal tooth, Sagittal craniosynostosis, Micrognathia, Death in childhood	OMIM:616901
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Frontal open bite, Micrognathia, Wide anterior fontanel, Short toe, Gin...	OMIM:225410
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Decreased response to growth hormone stimulation tes...	ORPHA:293978
Marshall-Smith Syndrome	Irregular dentition, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Glossop...	OMIM:602535
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Posteriorly rotated ears, Choanal atresia, Aggressive behavior, Absent cu...	ORPHA:284169
19P13.12 Microdeletion Syndrome	Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger, Finger syndactyly, Hyp...	ORPHA:254346
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve...	OMIM:300291
Oculocerebral Hypopigmentation Syndrome, Cross Type	Arachnodactyly, Anteverted nares, Depressed nasal bridge, Short stature, Abnormal thumb morpholog...	ORPHA:2719
Toluene Embryopathy	Short stature, Micrognathia, Tapered finger, Cryptorchidism, Protruding ear, Thin vermilion borde...	ORPHA:1920
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Absen...	OMIM:612813
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, B...	OMIM:213980
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Failure to thrive, Delayed eruption o...	ORPHA:90321
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Optic disc ...	ORPHA:1790
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Chromosome Xq13 Duplication Syndrome	Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Autoimm...	OMIM:301069
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s...	ORPHA:63446
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Broad hallux, Anteverted nares, Depressed nasal bridge, Retinal pigme...	OMIM:614105
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Short stature, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft pa...	OMIM:620269
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Anemia, Hepatosplenomegaly	OMIM:273680
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Recurrent respiratory infections, Narrow nose, Short iliac bones, Metaphys...	OMIM:607944
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Failure to thrive, Wide nose, Micrognathia, Protruding tongue, Splenomegaly, Jaundi...	OMIM:608779
Potocki-Lupski Syndrome	Mandibular prognathia, Hyperactivity, Dental crowding, Short stature, Small for gestational age, ...	OMIM:610883
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Large for gestational age, Short philtrum, Widely spaced teeth, Chorioretinal c...	OMIM:280000
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, Short stature, 2-3 toe s...	OMIM:614701
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Micrognathia, Hamartomatous polyposis, Neoplasm, Abnormal optic n...	ORPHA:109
Immunodeficiency 68	Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Septi...	OMIM:612260
Peho Syndrome	Tented upper lip vermilion, Tapered finger, Optic atrophy, Undetectable visual evoked potentials,...	OMIM:260565
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Posteriorly rotated ears, Sandal gap, Short stature, Long philtrum, Short nose	OMIM:300887
Fragile X Syndrome	Macroorchidism, postpubertal, Mandibular prognathia, Hyperactivity, Self-biting, Recurrent hand f...	OMIM:300624
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Anteverted nares, Depressed nasal b...	ORPHA:357001
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Depr...	OMIM:618019
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Ab...	OMIM:115150
Immunodeficiency 27B	Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom...	OMIM:615978
Pallister-Hall Syndrome	Small scrotum, Large for gestational age, Gonadotropin deficiency, Depressed nasal ridge, Micrope...	ORPHA:672
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Fetal Valproate Spectrum Disorder	Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi...	ORPHA:1906
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate...	OMIM:609441
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Deeah Syndrome	Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri...	OMIM:619004
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Narrow nasal ridge, Micrognathia, Splenomegaly, Pancreatitis, Osteolytic defects of...	ORPHA:280365
Neurodegeneration With Brain Iron Accumulation 2A	Micrognathia, Decreased nerve conduction velocity, Optic atrophy, Impaired social interactions, A...	OMIM:256600
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Short philtrum, Shawl scrotum, Short nose, Abnormal repetitive manner...	ORPHA:85277
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia...	ORPHA:536471
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Convex nasal ridge, Joint stiffness, Small ha...	ORPHA:902
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Hyperactivity, Anteverted nares, Tremor, Thick lower lip ve...	ORPHA:1942
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Protruding ear, Oligodontia, High palate, Short philtrum, Micropenis, Abnormal repe...	OMIM:309590
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Tapered finger, Clef...	OMIM:239300
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ...	OMIM:217980
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Hyperactivity, Depressed nasal bridge, Postaxial polydactyly, Aggressive behavior, Cryptorchidism...	OMIM:615824
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Oral ulcer, T lymphocytopenia, Recurrent abscess formation...	OMIM:619381
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Wide nose, Broad hallux, Dental ...	OMIM:614188
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Limited elbow movem...	OMIM:617809
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly	OMIM:616459
Peters-Plus Syndrome	Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Proximal placement of thu...	OMIM:261540
Trisomy 12P	Thickened nuchal skin fold, Short stature, Supernumerary nipple, Micrognathia, Wide nasal bridge,...	ORPHA:1699
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Hypospadias, Dental crowding, Prominent nasal bridge, Oral-pharyngeal dysphagia, Long nose, Postn...	OMIM:619184
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Anteverted nares, Micrognathia, Intrahepatic c...	ORPHA:46059
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Nasal polyposis, Asplenia, Recurrent mycobacterial infections...	ORPHA:244
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:306400
Intellectual Disability, Birk-Barel Type	Narrow nasal bridge, Hyperactivity, Tented upper lip vermilion, Micrognathia, Broad nasal tip, Hi...	ORPHA:166108
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Large t...	OMIM:215150
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serr...	ORPHA:168549
Cebalid Syndrome	Abnormal pinna morphology, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, De...	OMIM:618774
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Gingivitis...	ORPHA:2968
Cockayne Syndrome Type 2	Mandibular prognathia, Hearing impairment, Delayed eruption of primary teeth, Cryptorchidism, Hyp...	ORPHA:90322
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Increased bone mineral density, Small for gestational age, Thickened cortex o...	OMIM:127000
Phocomelia, Schinzel Type	Hypoplasia of penis, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hydrops fetali...	ORPHA:2879
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Short stature, Micrognathia, Underdeveloped nasal alae, Metaphys...	ORPHA:166035
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap...	ORPHA:2557
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Psychomotor deterioration, Congenital hip dislocation, Anteverted nares, Short stature, Subretina...	ORPHA:357074
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Microretrognathia, A...	ORPHA:59315
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Hypospadias, Diastema, Long philtrum, Short nose	OMIM:300581
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Depressed nasal bridge, Impulsivity, Shyness, Short stature, Retro...	OMIM:301030
Opsismodysplasia	Recurrent respiratory infections, Short metacarpal, Anteverted nares, Depressed nasal bridge, Rhi...	OMIM:258480
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thick upper lip vermilion, Thin bony cortex, Anteverted nares, Thick lower...	OMIM:619727
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo...	ORPHA:536467
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the ma...	OMIM:608328
Glass Syndrome	Dental crowding, Anterior tibial bowing, Micrognathia, Conical tooth, Long nose, Oligodontia, Hig...	OMIM:612313
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, Cryptor...	OMIM:227330
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Recurrent fractures, Micromelia, Cryptorchidism, Joint hyperflexibility, Dec...	ORPHA:2772
Tetrasomy 5P	Recurrent respiratory infections, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, ...	ORPHA:3309
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Polyhydramnios, Micrognathia, Tremor, Large for gestational age, Choreoathetosis, Large fleshy ea...	OMIM:614080
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r...	ORPHA:521426
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporosis, Oral ulc...	OMIM:232220
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, High palate,...	OMIM:219200
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa...	ORPHA:435638
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Tapered finger, Splenomegaly, Mi...	OMIM:301072
Adenylosuccinase Deficiency	Thin upper lip vermilion, Hyperactivity, Anteverted nares, Aggressive behavior, Opisthotonus, Wid...	OMIM:103050
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, 2-3 finger syndact...	OMIM:269500
Witteveen-Kolk Syndrome	Glue ear, Decreased response to growth hormone stimulation test, Proximal placement of thumb, Upl...	OMIM:613406
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Small hand, Sho...	ORPHA:238750
Degcags Syndrome	Osteopenia, Micrognathia, Prominent nose, Leukopenia, Iron deficiency anemia, High palate, Syndac...	OMIM:619488
Hypochondroplasia	Brachydactyly, Depressed nasal bridge, Flared metaphysis, Short long bone, Short femoral neck, Di...	OMIM:146000
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Wiedemann-Steiner Syndrome	Decreased response to growth hormone stimulation test, High palate, Low frustration tolerance, Cl...	ORPHA:319182
Spondyloocular Syndrome	Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Abnormality of the dentiti...	OMIM:605822
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Depressed nasa...	OMIM:300990
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypospadias, Micromelia, Hypoplasia of the radius, Nonopposable triphalang...	ORPHA:2252
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia, Tongue fasciculations	OMIM:619851
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Finger clinodactyly, Depressed nasal bridge, Tapered finger, Cryptorchidism, Micro...	OMIM:601353
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Polyhyd...	ORPHA:1812
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Tented upper lip vermilion, Posteriorly rotated ears, Rocker bottom...	OMIM:617527
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth, Hepatic steatosis, Pa...	ORPHA:2348
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Polyhydramnios, Micrognathia, Premature rupture of membran...	OMIM:275210
Alg9-Cdg	Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uvula, Microretrogn...	ORPHA:79328
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Death in infancy, Micrognathia, Optic atrophy, High palate, Short nose	OMIM:615042
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, High palate, Conductiv...	ORPHA:1225
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti...	OMIM:615948
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid...	OMIM:143095
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Fi...	OMIM:164900
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Anteverted nares, Prominent nasal bridge, Hypospadias, Cryptorchidism, Patent ductu...	ORPHA:500159
Trichohepatoenteric Syndrome 1	Polyhydramnios, Depressed nasal ridge, Bifid uvula, Hypospadias, Anteverted nares, Increased mean...	OMIM:222470
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Short stature, Small for gestational age, Precocious puberty, Long penis, ...	OMIM:262190
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Downturned corners of mo...	ORPHA:79500
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia...	OMIM:249000
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Recurrent respiratory infections, Spl...	ORPHA:77261
Mend Syndrome	Micrognathia, High palate, Abnormal nasal bridge morphology, Abnormal social behavior, Hyperactiv...	ORPHA:401973
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ...	OMIM:618394
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic iliac wing, Sh...	OMIM:611717
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Auto...	ORPHA:391487
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Wide pubic...	ORPHA:239
Insulin-Like Growth Factor I Deficiency	Short attention span, Hyperactivity, Short stature, Elevated circulating growth hormone concentra...	OMIM:608747
Cerebrooculonasal Syndrome	Downturned corners of mouth, High palate, Conductive hearing impairment, Encephalocele, Anteverte...	OMIM:605627
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Premature birth, Anteverted...	ORPHA:280200
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Satoyoshi Syndrome	Short stature, Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Amenorrhea,...	ORPHA:3130
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Hepatic steatosis, Pancytopenia, Recurrent urinary tract infections, Small for gestat...	OMIM:613658
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ...	ORPHA:309246
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Microretrognathia, Broad hallux, Deviation of the hallux, Acce...	ORPHA:434179
Alkuraya-Kucinskas Syndrome	Small scrotum, Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cutaneous...	OMIM:617822
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Retroperitoneal fib...	ORPHA:35687
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Micrognat...	ORPHA:90154
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Hyperactivity, Depressed nasal bridge, Prominent nasal bridge,...	OMIM:618505
Fg Syndrome 3	Death in infancy, Hyperactivity, Broad hallux, Cryptorchidism, Sensorineural hearing impairment, ...	OMIM:300406
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Focal Dermal Hypoplasia	Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Clitoral hypop...	OMIM:305600
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi...	OMIM:209900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Severe cytomegalovirus infection, T l...	OMIM:619313
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Hyperacti...	ORPHA:261323
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Absent thumb, Absent radius, Micrognathia, Micromelia, Humeroradial ...	OMIM:251230
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Short nose, Failure to thrive	OMIM:615851
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Deep p...	ORPHA:1675
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Protruding ear, Microdonti...	OMIM:613458
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, 11 pairs of ribs, Micromelia, Long philtrum, Short nose, Failure to thrive, A...	ORPHA:50810
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Depressed nasal bridge, Miscarriage, Short stature, Micrognathia...	OMIM:619695
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Bone-marrow foam cells, Tremor, Fetal ascites, Hydrops feta...	ORPHA:646
Distal Duplication 17Q	Micrognathia, Protruding ear, High palate, Short philtrum, Low-set, posteriorly rotated ears, Acc...	ORPHA:3379
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Mosaic Trisomy 16	Syndactyly, Abnormal ear morphology, Hypospadias, Premature birth, Small for gestational age, Abn...	ORPHA:1708
Kaufman Oculocerebrofacial Syndrome	Smooth philtrum, Optic disc pallor, Thin upper lip vermilion, Congenital hip dislocation, Abnorma...	OMIM:244450
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed nasal bridge, Micrognathia, B...	OMIM:613457
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Compulsive behavior...	OMIM:135900
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Hepa...	ORPHA:373
Intellectual Developmental Disorder, Autosomal Dominant 29	Dental crowding, Cutaneous finger syndactyly, High palate, Hyperactivity, Broad hallux, Cryptorch...	OMIM:616078
Jacobsen Syndrome	Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Hypospadias, Microgna...	OMIM:147791
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Pancreatic cys...	ORPHA:1318
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Failure to thrive, Anteverted nares, Protruding tongue, Cryptorchidism, Obes...	ORPHA:96147
Trisomy 10P	Micrognathia, Abnormality of the ear, Orofacial cleft, High palate, Abnormal hip joint morphology...	ORPHA:171929
Mosaic Variegated Aneuploidy Syndrome 2	Small for gestational age, Decreased response to growth hormone stimulation test, Craniosynostosi...	OMIM:614114
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Male pseudohermaphr...	ORPHA:1422
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxi...	OMIM:613610
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Small earlob...	OMIM:619522
Chromomycosis	Ankylosis, Osteolysis, Recurrent bacterial infections, Abnormal oral cavity morphology, Lymphangi...	ORPHA:182
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate...	OMIM:180849
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Micrognathia, Conical tooth, Prominent nose, Sensorineural hearing impairment, Supernumerary toot...	ORPHA:90024
Opitz Gbbb Syndrome	Bifid scrotum, Micrognathia, High palate, Enlarged ovaries, Hypospadias, Anteverted nares, Short ...	ORPHA:2745
7Q31 Microdeletion Syndrome	Short attention span, Torticollis, Hyperactivity, Wide nasal ridge, Prominent nose, Hypoplasia of...	ORPHA:251061
Desbuquois Dysplasia 2	Dental crowding, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu varum, Short me...	OMIM:615777
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Short stature, Cleft lip, Deep philtrum, Bulbous nose, Wide n...	OMIM:618571
Distal Deletion 9P	Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the dentition, High, narrow palate...	ORPHA:1642
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Postaxial polydactyly, Micrognathia, Micromelia, Missing...	OMIM:617866
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Patent...	ORPHA:2655
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va...	OMIM:264090
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Short stature, Mic...	ORPHA:1915
Chops Syndrome	Anteverted nares, High, narrow palate, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Ob...	OMIM:616368
Acromesomelic Dysplasia 4	Mandibular prognathia, Broad toe, Short metacarpal, Radial bowing, Sandal gap, Prominent deltoid ...	OMIM:619636
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Failure to thrive, Posteriorly rotated ears, Underdeveloped superior c...	ORPHA:369950
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Kniest Dysplasia	Enlarged epiphyses, Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femora...	ORPHA:485
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Asplenia, Cryptor...	ORPHA:99776
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Short stature, Pi...	ORPHA:1358
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Thin upper lip vermilion, Hyperactivity, Short attention span, Aggressive behavior, Postnatal gro...	OMIM:620242
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro...	ORPHA:2633
Barber-Say Syndrome	Delayed eruption of teeth, Abnormal pinna morphology, Anteverted nares, Bulbous nose, Wide nasal ...	ORPHA:1231
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ...	ORPHA:93316
Jacobsen Syndrome	Long hallux, Broad columella, Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syn...	ORPHA:2308
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Supernumerary tooth, Medulloblas...	ORPHA:247806
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Micromelia, Coxa vara, Short palm	ORPHA:168555
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin...	ORPHA:1652
Restrictive Dermopathy	Natal tooth, Decreased fetal movement, Aplasia/Hypoplasia involving the nose, Hypospadias, Campto...	ORPHA:1662
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Shor...	ORPHA:2636
Mogs-Cdg	Absent brainstem auditory responses, Wide nose, External genital hypoplasia, Polyhydramnios, Sens...	ORPHA:79330
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H...	ORPHA:2249
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Micrognathia, Abnormal optic disc morphology, Short philtrum, High palate...	ORPHA:96121
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Overlapping toe, Anteverted nares, Depressed nasal...	OMIM:617301
Ring Chromosome 7 Syndrome	Mandibular prognathia, Short philtrum, Clinodactyly of the 5th finger, Small earlobe, Bifid uvula...	ORPHA:1449
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Deep philtrum, Protruding ear, Iron deficiency anemia, ...	OMIM:300855
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Weiss-Kruszka Syndrome	Exaggerated cupid's bow, Anteverted nares, Proximal placement of thumb, Hearing impairment, Cuppe...	OMIM:618619
Cockayne Syndrome	Retinal arteriolar constriction, Retinal degeneration, Intention tremor, Retinal atrophy, Abnorma...	ORPHA:191
Intellectual Developmental Disorder, X-Linked 107	Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Prominent cr...	OMIM:301013
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Hepa...	OMIM:200995
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Underdeveloped nasal alae, He...	ORPHA:2031
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Decreased body weight, Short stature, Optic nerve hypoplasia, Prominent nasal ...	OMIM:300749
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Anteverted nares, Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Dep...	OMIM:613038
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Exaggerated cupid's bow, Polyhydramnios, Anteverted nares, Depressed n...	ORPHA:254528
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Short stature, Prea...	OMIM:610536
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Peho Syndrome	Recurrent respiratory infections, Anteverted nares, Tapered finger, Short nose, Flexion contractu...	ORPHA:2836
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Micrognathia, Downturned corners of mouth, Short philtrum, Wid...	OMIM:619297
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, 11 pairs of ribs, Tented upper lip vermilion, Decreased respons...	ORPHA:488632
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Hepato...	ORPHA:171
Musculocontractural Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Retinal detachment, Microretrognathia, Thin upper lip vermilio...	ORPHA:2953
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Joint hyper...	OMIM:278250
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Hepatomegaly, Tented upper lip vermilion, Tapered toe, Shoulder flexion contract...	OMIM:620369
Khan-Khan-Katsanis Syndrome	Lymphopenia, Tented upper lip vermilion, Patent ductus arteriosus after premature birth, Postaxia...	OMIM:618460
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplas...	OMIM:617895
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Protruding ear, Thick nasal septu...	OMIM:303600
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Premature birth, Abnormal morphology of ulna, Anteverted nares...	ORPHA:1340
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Recurrent ...	OMIM:615895
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Recurrent sinopulmonary infections, Congenital hip disloca...	ORPHA:2834
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Impulsivity, Optic atro...	ORPHA:35069
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Dental crowding, Proximal placement of thumb, Micrognathia, Microme...	OMIM:270400
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Wide nose, Anteverted nares, Aggressive behavior, Bulbous nose, Thick lower lip vermil...	ORPHA:314647
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Female hypogonadism, ...	OMIM:208900
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaphysis, Glossoptosis, Short long ...	ORPHA:93346
Gaucher Disease	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent ...	ORPHA:355
Trisomy 8P	Short fourth metatarsal, Fetal pyelectasis, Aplasia/Hypoplasia of the gallbladder, Conductive hea...	ORPHA:264450
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Small scrotum, Prominent nose, Lo...	OMIM:300486
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy, Sensorineural hearing impairment, Optic atrophy, Depression, Dementia, Memory impairment	OMIM:604121
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Protrudi...	ORPHA:261144
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Tapered finger, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose...	OMIM:615803
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Anteverted ears, Dystonia, Clinodactyly, Short nose	OMIM:618087
Kagami-Ogata Syndrome	Pursed lips, Premature birth, Anteverted nares, Polyhydramnios, Micrognathia, Coxa valga, Large p...	ORPHA:254519
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Retinal detachment, Tented upper lip vermilion, Tapered finger, Long finge...	ORPHA:521445
Thanatophoric Dysplasia, Type I	Champagne cork sign, 1-minute APGAR score of 1, Bowing of the long bones, Decreased fetal movemen...	OMIM:187600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Joint stiffness, Thrombocytopenia, Patent ductus arteriosus, Fl...	ORPHA:505248
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Polyhydramnios, Tapered finger, ...	OMIM:613603
Lysinuric Protein Intolerance	Osteopenia, Hepatomegaly, Decreased response to growth hormone stimulation test, Thrombocytopenia...	ORPHA:470
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Narcolepsy, Sensorineural hearing impairment, Optic atrophy, Depression, Head tre...	ORPHA:314404
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Hypoplastic iliac wing, Microp...	OMIM:263650
Legius Syndrome	Neoplasm of the central nervous system, Multiple lipomas, Male urethral meatus stenosis, Clinodac...	ORPHA:137605
Cousin Syndrome	Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male...	OMIM:260660
Neu-Laxova Syndrome	Osteopenia, External genital hypoplasia, Micromelia, Micrognathia, Flexion contracture, Depressed...	ORPHA:2671
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop...	ORPHA:1860
Toriello-Carey Syndrome	Abnormal pinna morphology, Aganglionic megacolon, Hearing impairment, Micrognathia, Short stature...	ORPHA:3338
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Small scrotum, Protruding ear, High palate, Abnormal repetitive mannerisms...	OMIM:620330
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Hyposegmentation of neutrophil nuclei, Thin ver...	OMIM:614800
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Aggressive behavior, Abnormal amplitude of flash visual evoked potentials, Motor d...	ORPHA:168491
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Recurrent bacterial infections, Arthritis, Meningitis	ORPHA:36412
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Recurre...	OMIM:603903
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Anteverted nares, Micrognath...	ORPHA:1974
Cystic Fibrosis	Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Nasal ...	ORPHA:586
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Rhizomelia, Absent nasal bridge, Mesomelia, Broad thumb, Bra...	ORPHA:171866
Hydrolethalus	Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate...	ORPHA:2189
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Female pseudohermaphroditism, Cryptorchidism, Short to...	ORPHA:1519
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Short philtrum, Prolonged neonatal jaundice, Open mouth, Sho...	OMIM:618437
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Tented upper lip vermilion, Broad hallux, Broad nasal tip, Wide nasal bridge, Cleft palate, Short...	OMIM:614749
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Fetal pyelectasis, Calcaneovalgus deformit...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Fetal pyelectasis, Calcaneovalgus deformit...	ORPHA:363958
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Fetal pyelectasis, High palate, ...	OMIM:619512
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Omodysplasia 1	Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Depressed nasal bri...	OMIM:258315
Metachromatic Leukodystrophy, Adult Form	Short attention span, Decreased nerve conduction velocity, Optic atrophy, Neoplasm of the gallbla...	ORPHA:309271
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum...	ORPHA:314655
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Sensorineural hearing impair...	OMIM:616430
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Anteverted na...	ORPHA:438216
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Precocious puberty, Abnormal neuron morphology, Preaxial poly...	ORPHA:163681
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Supernumerary nipple, Aggressive behavior, ...	ORPHA:457279
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Patent ductus arteriosus, Limitation of joint mobility, Joint...	ORPHA:93274
Koolen-De Vries Syndrome	Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pads, Hyperactivity, Short...	OMIM:610443
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Anemia	ORPHA:99688
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, High palate, Br...	OMIM:617523
Campomelic Dysplasia	Bowing of the long bones, Depressed nasal bridge, Small abnormally formed scapulae, Short stature...	ORPHA:140
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Tremor, Large fleshy ears, High palate, Prominent superior crus of an...	ORPHA:280633
Lethal Congenital Contracture Syndrome 10	Torticollis, Micrognathia, Fetal akinesia sequence, Hydrops fetalis, Narrow palate, Femoral bowin...	OMIM:617022
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha...	OMIM:177170
Slc39A8-Cdg	Osteopenia, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contracture, Recurrent ...	ORPHA:468699
Menke-Hennekam Syndrome 1	Short ear, Micrognathia, Deep philtrum, Depressed nasal ridge, Protruding ear, Cutaneous syndacty...	OMIM:618332
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U...	OMIM:619426
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec...	OMIM:619503
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor, Wide penis,...	ORPHA:3455
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Uterus di...	ORPHA:2491
Mucopolysaccharidosis Type 2	Progressive neurologic deterioration, Conductive hearing impairment, Abnormal repetitive manneris...	ORPHA:580
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Mepan Syndrome	Axial dystonia, Limb dystonia, Hemidystonia, Optic atrophy, Dysphagia, Dystonia, Abnormality of v...	ORPHA:508093
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Convex nasal ridge, Short stature, ...	OMIM:619321
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Genitopatellar Syndrome	Congenital hip dislocation, Small scrotum, Polyhydramnios, Micrognathia, Prominent nose, Hypoplas...	OMIM:606170
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal oss...	OMIM:114290
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Renal And Mullerian Duct Hypoplasia	Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth ret...	OMIM:266810
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El...	ORPHA:542323
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp...	ORPHA:894
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the ph...	OMIM:615630
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment, Abnormality of visual e...	ORPHA:141
Meckel Syndrome, Type 9	Ambiguous genitalia, Limb undergrowth, Talipes equinovarus	OMIM:614209
Tetrasomy 18P	Large hands, Thin vermilion border, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, S...	OMIM:618820
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Asplenia, Calcaneovalgu...	ORPHA:261537
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Oligodontia, Microdontia...	OMIM:612289
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Short attention span, Exaggerated startle response, Failure to thrive, Sho...	OMIM:617864
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, Neur...	ORPHA:206443
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Polyhydramnios, Short metatarsal, High palate, Short metacarpal, Anteverted nare...	OMIM:617157
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Depressed nasal bridg...	OMIM:211350
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Short nose, Short stature, Stereotypical hand wringing	ORPHA:289266
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ...	ORPHA:101039
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Bowing of the long bones, Severe short stature, Choanal atre...	OMIM:156400
C Syndrome	Polyhydramnios, Micrognathia, High palate, Clinodactyly of the 5th finger, Dislocated radial head...	ORPHA:1308
Dend Syndrome	Anteverted nares, Elevated hemoglobin A1c, Downturned corners of mouth, Long philtrum, Clinodacty...	ORPHA:79134
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors...	OMIM:309580
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t...	ORPHA:968
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Anteverted nares, Hearing impairment, Polyhydramnios, Aga...	ORPHA:3339
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal ossification, Flexion contracture, P...	OMIM:210710
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Flexion contracture, Retrognathia, Recurrent infections, Hypogonadism,...	OMIM:601675
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm...	ORPHA:1401
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Clitoral hypertrophy, Anteverted nares, Depressed na...	OMIM:619124
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depress...	ORPHA:449291
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Jaberi-Elahi Syndrome	Depressed nasal bridge, Tremor, Optic atrophy, Protruding ear, Choreoathetosis, Low-set ears, Dys...	OMIM:617988
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Decreased fetal movement, Tented upper lip vermilion, Aganglionic megacolon, Short stature, Broad...	OMIM:614207
Geleophysic Dysplasia 2	Thin upper lip vermilion, Hepatomegaly, Joint stiffness, Limitation of joint mobility, Cone-shape...	OMIM:614185
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Clubbi...	ORPHA:60033
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognath...	ORPHA:1908
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Micrognathia, Optic atrophy, Gingival overgrowth, Short upper lip, Short philtrum, Dystonia, Prom...	OMIM:616875
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Complement Factor B Deficiency	Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease	OMIM:615561
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Exaggerated medi...	OMIM:312870
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim...	ORPHA:2975
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Growth de...	OMIM:608800
Müllerian Aplasia And Hyperandrogenism	Short stature, Obesity, Primary amenorrhea, Protruding ear, Hypoplasia of the uterus, Cleft palat...	ORPHA:247768
Aymé-Gripp Syndrome	Oligodontia, Clinodactyly of the 5th finger, Depressed nasal bridge, Short stature, Tapered finge...	ORPHA:1272
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Flexion contracture, Small for gestational age, Recurrent infections	ORPHA:79243
Pelizaeus-Merzbacher Disease	Premature birth, Short stature, Cachexia, Failure to thrive in infancy, Optic atrophy, Choreoathe...	ORPHA:702
Achondrogenesis, Type Ii	Microretrognathia, Broad long bones, Polyhydramnios, Short tubular bones of the hand, Disproporti...	OMIM:200610
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Bowing of...	OMIM:610682
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Micromel...	ORPHA:2021
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Cleft soft palate, Anteverted nares, Micrognathia, Short stature, Cryptorchidism, Ma...	ORPHA:2282
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Macrotia, Optic atrophy, Decreased fertility, Hypoplasia of teeth, Growth delay...	OMIM:234050
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Precocious puberty, Tremor, Optic atrophy, Dy...	ORPHA:845
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa...	ORPHA:79474
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of ton...	OMIM:613091
Monosomy 9P	Proximal placement of thumb, Micrognathia, Anotia, High palate, Hypospadias, Anteverted nares, De...	ORPHA:261112
Hypertrichosis Cubiti	Joint hyperflexibility, Rhizomelia, Prominent nasal bridge, Micromelia	ORPHA:2220
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre...	ORPHA:100924
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Depressed nasal bridge, Short stature, Small for gestational age, Cryptorchidism, Se...	OMIM:300661
Infantile Krabbe Disease	Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic...	ORPHA:206436
Mowat-Wilson Syndrome	Bifid scrotum, Mandibular prognathia, Dental crowding, Uplifted earlobe, Asplenia, Cleft hard pal...	ORPHA:2152
Mucopolysaccharidosis, Type Iiid	Oppositional defiant disorder, Hyperactivity, Anteverted nares, Depressed nasal bridge, Short sta...	OMIM:252940
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Autoimmune Hypoparathyroidism	Increased bone mineral density, Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidism	ORPHA:36913
Cerebrotendinous Xanthomatosis	Abnormal tibia morphology, Abnormal finger morphology, Abnormal femur morphology, Progressive psy...	ORPHA:909
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Decreased nerve conduction velocity, Optic atrophy, Progressive psychomotor...	ORPHA:309263
Ayme-Gripp Syndrome	Mandibular prognathia, Depressed nasal bridge, Short stature, Tapered finger, Wide nasal bridge, ...	OMIM:601088
Rhyns Syndrome	Radial bowing, Short stature, Decreased response to growth hormone stimulation test, Sensorineura...	OMIM:602152
Peters Plus Syndrome	Polyhydramnios, Micrognathia, Clitoral hypoplasia, Widely spaced teeth, Conductive hearing impair...	ORPHA:709
Mend Syndrome	Microretrognathia, Hyperactivity, Overlapping toe, Broad hallux, Posteriorly rotated ears, Microg...	OMIM:300960
Zttk Syndrome	Absent gallbladder, Depressed nasal bridge, Craniosynostosis, Abnormality of the dentition, Hypop...	OMIM:617140
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Short femur, Micrognathia, Disproportionate short-trunk short stature, Upper ...	ORPHA:94068
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Gingival overgrowth, Wide nasal b...	OMIM:619179
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Cryptorchidism, Humero...	OMIM:134780
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Abnormal repet...	OMIM:301044
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ...	OMIM:620133
Mucopolysaccharidosis Type 3	Progressive neurologic deterioration, Adenoiditis, Otitis media, Thickened helices, Conductive he...	ORPHA:581
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Polyhydramnios, Large for gestational age, Subchorionic septal cyst, Leiom...	ORPHA:116
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Micrognathia	ORPHA:1129
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bifid scrotum, Dental crowding, Cleft hard palate, Asplenia, Calcaneovalgu...	ORPHA:261552
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Lethal Acantholytic Erosive Disorder	Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palat...	ORPHA:158687
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Non-midli...	ORPHA:1791
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Depressed nasal bridge, Postaxial polydactyly, Polyhydramnios, S...	OMIM:615503
Cln5 Disease	Hyperactivity, Aggressive behavior, Tremor, Mental deterioration, Obsessive-compulsive trait, Abn...	ORPHA:228360
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Delayed eruption of teeth, Short stature, Eosinophil...	OMIM:308300
Becker Nevus Syndrome	Supernumerary nipple, Micromelia, Hypoplastic labia minora, Abnormal tibia morphology, Abnormalit...	ORPHA:64755
Williams Syndrome	Hypoplasia of penis, Micrognathia, Tremor, Protruding ear, Compulsive behaviors, Clinodactyly of ...	ORPHA:904
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Posteriorly rotated ears, Hyperactivity, Short sta...	OMIM:614294
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent respiratory infections, Conical tooth, Splenomegaly, Defective production...	OMIM:612132
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Short femur, Anteverted nares, Metaphyseal spurs, Polyhydramnios, Depressed ...	OMIM:618188
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Short philtrum, Cleft palate	OMIM:617337
Familial Multiple Lipomatosis	Bowing of the long bones, Odontogenic keratocysts of the jaw, Medulloblastoma, Chorioretinitis, P...	ORPHA:199276
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Depression, Thick vermilion border, Macrodontia of permanent maxill...	OMIM:620114
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Posteriorly rotated ears, Short lingua...	OMIM:619479
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Recurrent respiratory infections, Congenital hip dislocation, Small for gestational...	ORPHA:404454
Ramon Syndrome	Delayed eruption of teeth, Optic disc pallor, Short stature, Enlarged labia minora, Gingival fibr...	OMIM:266270
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Low-set ears, Narrow mouth, Cognitive impairment, Ove...	OMIM:613735
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Tented upper lip vermilion, Hyperactivity, Prominent nose, Optic at...	OMIM:617281
Postinfectious Vasculitis	Viral hepatitis, Persistent human papillomavirus infection, Increased circulating IgA level, Orch...	ORPHA:48435
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Short s...	OMIM:139210
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge	ORPHA:1861
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Tremor, Dystonia, Mental deterioration, Abnormality of visua...	ORPHA:96
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Obesity, Bilateral breast hypoplasia, Hip dysplasia, ...	ORPHA:319675
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i...	OMIM:601455
Arterial Tortuosity Syndrome	Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit...	ORPHA:3342
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Depressed nasal bridge, Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral...	OMIM:616482
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Absent or minimally ossified vertebral bodies, Sho...	ORPHA:93271
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum, Decreased circulating IgG...	ORPHA:500150
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hypertropy, An...	OMIM:252500
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Ne...	ORPHA:352731
Asparagine Synthetase Deficiency	Prominent nasal tip, Decreased fetal movement, Exaggerated startle response, Failure to thrive, O...	OMIM:615574
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Neoplasm of the o...	ORPHA:543
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ...	OMIM:263520
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Perianal abs...	OMIM:301074
Microphthalmia, Syndromic 1	Dental crowding, High, narrow palate, Orofacial cleft, High palate, Chorioretinal coloboma, Promi...	OMIM:309800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosyno...	OMIM:609942
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re...	ORPHA:1215
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tented upper lip vermilion, Tremor, Truncal titubation, Thin vermil...	OMIM:618056
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, High, narrow palate, Delayed early-childhood social milestone development, High pal...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, High, narrow palate, Delayed early-childhood social milestone development, High pal...	ORPHA:99228
Monosomy X	Micrognathia, High, narrow palate, Delayed early-childhood social milestone development, High pal...	ORPHA:99226
Turner Syndrome	Micrognathia, High, narrow palate, Delayed early-childhood social milestone development, High pal...	ORPHA:881
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Obesity, Short nose	OMIM:611936
Pterygium Colli, Isolated	Short nose, Protruding ear	OMIM:177990
Tetrasomy 9P	Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth, Inappropriate behavior, Hig...	ORPHA:3310
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Irregular c...	OMIM:252600
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,...	ORPHA:444077
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,...	ORPHA:314473
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormal pinna morphology, Micrognathia, Optic atrophy, Gingival overgrowth, Short philtrum, Prom...	ORPHA:480898
African Trypanosomiasis	Papilledema, Premature birth, Miscarriage, Abnormality of the menstrual cycle, Tremor, Narcolepsy...	ORPHA:3385
Cadds	Micrognathia, Sensorineural hearing impairment, Dystonia, Intrauterine growth retardation, Short ...	ORPHA:369942
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Anteverted nares, Depressed nasal b...	ORPHA:2729
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, ...	ORPHA:3015
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Shyness, Aggressive behavior, Abnormal eating behavior, Obesity, W...	ORPHA:293948
Pallister-Killian Syndrome	Congenital hip dislocation, Small scrotum, Tented upper lip vermilion, Polyhydramnios, Micrognath...	OMIM:601803
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Cryptorchidism, Intrauterine growth retardation, Hearing im...	OMIM:620327
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia	ORPHA:79107
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen...	OMIM:601152
Xylt1-Cdg	Short stature, Coxa valga, Flared metaphysis, Cleft palate, Growth delay, Truncal obesity, Short ...	ORPHA:370930
Dyrk1A-Related Intellectual Disability Syndrome	Anterior pituitary hypoplasia, Protruding ear, Clinodactyly of the 5th finger, Micropenis, Abnorm...	ORPHA:464306
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Microdontia	ORPHA:1765
Sandhoff Disease	Exaggerated startle response, Orthostatic hypotension, Progressive psychomotor deterioration, Hep...	OMIM:268800
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Hermansky-Pudlak Syndrome	Menometrorrhagia, Abnormal dental enamel morphology, Epistaxis, Anorexia, Ocular albinism, Weight...	ORPHA:79430
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Equinus calcaneus, Repetitive compulsive behavior, 2-3 toe syndactyly, ...	ORPHA:522077
Sotos Syndrome	Astrocytoma, Tremor, No permanent dentition, Neoplasm, Conductive hearing impairment, Chronic oti...	ORPHA:821
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri...	OMIM:616881
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Retinal detachment, Thin upper lip vermilion, Arachnodactyly, Posteriorly rota...	OMIM:601776
Ulbright-Hodes Syndrome	Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Depressed nas...	ORPHA:3404
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Cachexia, Decreased nerve conduction velocity, Sensorineural hearing impairment, A...	ORPHA:1933
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Clinodactyly of the 5th finger, Microdontia, Micropenis, Joint l...	OMIM:194050
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Protruding ear, Iron deficiency anemia, High palate, Hypoplastic iliac ...	ORPHA:93315
Tuberous Sclerosis Complex	Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Chorioretinal hyp...	ORPHA:805
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Short stature, Delayed eruption of primary teeth, Aggressive behavior, Small for...	OMIM:617799
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural hearing impairment, D...	ORPHA:309256
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate...	OMIM:271640
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Absent nipple, Depressed nasal bridge, Abnormal oral mucosa morpholo...	OMIM:305100
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal c...	ORPHA:314478
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Flat...	OMIM:610828
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Polyhydramnios, Large for gestational age, Postnatal growth retardatio...	ORPHA:254534
Primary Hyperoxaluria	Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Rootless teeth, Ab...	ORPHA:416
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Sensorineural hearing impairment, Abnormal auditory evok...	ORPHA:320401
Choreoacanthocytosis	Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decreased amplitude of sensory action po...	ORPHA:2388
Early Infantile Epileptic Encephalopathy	Hyperactivity, Dystonia, Anteverted nares, Depressed nasal bridge, Precocious puberty, Tremor, Cl...	ORPHA:1934
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ...	ORPHA:567983
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Nonarteritic anterior ischemic optic neuropathy, Subcortical dementia, Pseudobulbar paralysis, De...	OMIM:125310
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Schisis Association	Small for gestational age, Unilateral cleft lip, Cleft palate, Micromelia	ORPHA:63862
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Abnormal pelvis bone morphology, Abnormal dental enamel morphol...	ORPHA:2273
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Posteriorly rotated ears, Overlapping toe, Polyhydramnios, Low-set ...	OMIM:618598
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Early-Onset Autosomal Dominant Alzheimer Disease	Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc...	ORPHA:1020
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials, Growth delay, Gingivitis, Death in childhood	OMIM:614457
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Short stature, Polyhydramnios, Cleft upper lip, Cle...	ORPHA:1394
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi...	OMIM:184253
Maternal Phenylketonuria	Hyperactivity, Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Wide nasal brid...	ORPHA:2209
Molybdenum Cofactor Deficiency, Complementation Group B	Opisthotonus, Growth delay, Irritability, Thick vermilion border, Long philtrum, Neonatal death, ...	OMIM:252160
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Anteverted nares, Hip...	ORPHA:457284
Metachromatic Leukodystrophy	Tremor, Decreased nerve conduction velocity, Neoplasm of the gallbladder, Abnormal gallbladder mo...	ORPHA:512
Narcolepsy 7	Narcolepsy, Obesity	OMIM:614250
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Developmental And Epileptic Encephalopathy 3	Death in childhood, Abnormality of visual evoked potentials, Death in adolescence	OMIM:609304
Mowat-Wilson Syndrome	Bifid scrotum, Delayed eruption of teeth, Hypospadias, Aganglionic megacolon, Supernumerary nippl...	OMIM:235730
Cog1-Cdg	Low-set, posteriorly rotated ears, Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Coxa va...	ORPHA:263508
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Accessory oral frenulum, Hamartoma of tongue, Postaxial polydactyly, Apla...	OMIM:616546
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, R...	OMIM:617718
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop...	ORPHA:485421
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Male pseudohermaphroditism, Short phalanx of finger, Brachydactyly	OMIM:600092
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Abnormal nasal mucosa morphology, Eosinophilia, Portal hypertensi...	ORPHA:797
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Nuchal cord, Short stature, Tapered fin...	OMIM:618367
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Micrognathia, 2-3 toe cutaneous syndactyly, Hand tremor, Protruding ear, Downturned co...	OMIM:614756
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Short stature, Precocious puberty, Cryptorchidis...	ORPHA:438213
Tay-Sachs Disease	Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia	OMIM:272800
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Short attention span, Orthostatic hypotension due to autonomic dysfun...	ORPHA:642
Narcolepsy 1	Narcolepsy	OMIM:161400
Narcolepsy 3	Narcolepsy	OMIM:609039
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Macroglossia, Cognit...	ORPHA:258
Neurodegeneration With Brain Iron Accumulation 1	Motor tics, Hyperactivity, Acanthocytosis, Tremor, Optic atrophy, Phonic tics, Depression, Blepha...	OMIM:234200
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy	OMIM:609541
Stiff-Person Syndrome	Depression, Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Hip dislocation	OMIM:149400
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy	ORPHA:320406
17Q11 Microdeletion Syndrome	Osteopenia, Depressed nasal bridge, Bowing of the legs, Precocious puberty, Osteoporosis, Osteoly...	ORPHA:97685
Congenital Generalized Lipodystrophy	Mandibular prognathia, Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in fema...	ORPHA:528
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Peroxisome Biogenesis Disorder 4B	Retinal dystrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic a...	OMIM:614863
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Recurrent urinary tract infections, Breast aplasia, Abnormality of the...	ORPHA:2036
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia	OMIM:253800
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Basal cell carcinoma, Squamous cell carcinoma of the sk...	ORPHA:79431
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive	OMIM:618201
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Pancreatitis,...	ORPHA:544482
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline de...	OMIM:229400
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Death in childhood	OMIM:300607
Molybdenum Cofactor Deficiency, Complementation Group A	Opisthotonus, Growth delay, Thick vermilion border, Long philtrum, Short nose	OMIM:252150
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Hyperekplexia 3	Exaggerated startle response, Meconium stained amniotic fluid, Ventouse delivery	OMIM:614618
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Small for gestational age, Narrow nasal ridge, Dysphagia, Pigmentary ret...	OMIM:606721
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Hyperekplexia 2	Exaggerated startle response, Increased fetal movement	OMIM:614619
Friedreich Ataxia	Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:229300
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Short stature, Optic atrophy, Abnormal autonomic nervous system physiolo...	OMIM:231550
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Hypoplasminogenemia	Cervicitis, Gingival overgrowth, Gingivitis, Periodontitis, Abnormal fallopian tube morphology, A...	ORPHA:722
Penile Agenesis	Posteriorly rotated ears, Depressed nasal bridge, Cryptorchidism, Fetal pyelectasis, Absent penis...	ORPHA:49
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Abnormality of visual evoked potentials, Failure to thrive, Dementia, Bile duct proliferation	OMIM:203700
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103

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 Fos

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Fos.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Fos ensembles encode and shape stable spatial maps in the hippocampus.	Nature (August 2022)	Fosb^{tm1c(KOMP)Wtsi}	PMC9452297
Bidirectional perisomatic inhibitory plasticity of a Fos neuronal network.	Nature (December 2020)	Fosb^{tm1c(KOMP)Wtsi}	PMC7864877
AP-1 Transcription Factors and the BAF Complex Mediate Signal-Dependent Enhancer Selection.	Molecular cell (December 2017)	Fosb^{tm1c(KOMP)Wtsi} Fosb^{tm1a(KOMP)Wtsi}	29272704

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Fos^{tm380306(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fos^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

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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Gene: Fos MGI:95574

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E18.5

X-ray

Gross Morphology Embryo E18.5

Human diseases caused by Fos mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data