Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger E-box binding homeobox 1
Synonyms:
ZEB,  3110032K11Rik,  [delta]EF1,  Nil2,  Tcf18,  MEB1,  AREB6,  Tw,  Tcf8,  Zfx1a,  Zfhep,  Zfhx1a

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zeb1 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.

The table below shows human diseases associated to Zeb1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Zeb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Abnormal mandible morphology, Cleft upper lip, Cleft lower lip, Irregular dentition, Me... ORPHA:401942
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Oligodontia, Sensorineural hearing impairment ORPHA:3230
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Temporomandibular joint ankylosis, Respiratory distress, Feeding difficulties, Micr... ORPHA:141152
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Atelosteogenesis, Type I
Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax... OMIM:108720
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Anterior rib cupping, Bilateral t... OMIM:269250
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Sensorineural hearing impairment OMIM:223200
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Platyspondylic Dysplasia, Torrance Type
Low-set ears, Hypoplastic scapulae, Bowing of the long bones, Short foot, Genu varum, Disproporti... ORPHA:85166
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Atelosteogenesis, Type Iii
Depressed nasal bridge, Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radia... OMIM:108721
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Multiple Epiphyseal Dysplasia Type 4
Low-set ears, Hypoplastic cervical vertebrae, Radial bowing, Abnormal earlobe morphology, Limitat... ORPHA:93307
Fibrochondrogenesis 1
Thin ribs, Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad l... OMIM:228520
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Syngnathia
Cleft palate OMIM:119550
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Aplasia/Hypoplasia of the u... ORPHA:2496
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re... OMIM:210720
Pierre Robin Syndrome
Micrognathia, Feeding difficulties in infancy, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Chondrodysplasia With Joint Dislocations, Gpapp Type
Hearing impairment, Genu valgum, Micrognathia, Narrow mouth, Radial head subluxation, Patellar di... OMIM:614078
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Broad nasal tip, Conductive hearing impairment, Atresia of the external auditory c... OMIM:239800
Dermoids Of Cornea
Corneal opacity OMIM:304730
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Non-midline cle... ORPHA:2007
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Genu valgum, Micrognathia, De... ORPHA:1452
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Micrognathia, Cryptorchidism, Talipes equinovarus,... ORPHA:1988
Auriculocondylar Syndrome 2A
Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Stenosis of the external auditory c... OMIM:614669
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Acromesomelic Dysplasia 4
Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bo... OMIM:619636
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Depressed nasal bridge, Narrow chest, Fetal ascites, Micromelia, F... OMIM:215045
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Microphthalmia With Limb Anomalies
Low-set ears, Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retar... OMIM:206920
Achondroplasia
Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Prem... OMIM:100800
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Micrognathia, Splenomegal... ORPHA:3035
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Limitation of joint mobility, ... ORPHA:90650
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Atresia of the external auditory canal, Micrognathia, Narrow mouth, Scapulo... OMIM:602471
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Bilateral conductive hearing impairment, Carpal synostosis, Thick upper... OMIM:186500
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... OMIM:156550
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Premature birth, Femoral bowing, Micr... ORPHA:440354
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic... OMIM:151210
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... OMIM:600920
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Hearing impairment, Sclerosis of hand bone, Micrognathia, ... OMIM:224300
Tarp Syndrome
Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Bilateral talipes ... OMIM:311900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... OMIM:215140
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Hearing impairment, Fibular bowing, Secondary hyp... OMIM:277440
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Anophthalmia Plus Syndrome
Tessier cleft, Choanal atresia, Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ... ORPHA:1104
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
X-Linked Intellectual Disability, Abidi Type
Hearing impairment, Prominent nasal bridge, Protruding ear, Non-midline cleft of the upper lip, C... ORPHA:85273
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Elbow dislocation, Radial bowing, Lateral humeral condyle aplasia, Decrea... OMIM:164900
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Achondrogenesis, Type Ia
Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnorm... OMIM:200600
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Encepha... ORPHA:1865
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Intestinal Dysmotility Syndrome
Low-set ears, Decreased intestinal transit time, Diarrhea, Abdominal distention, Projectile vomit... OMIM:620045
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Stuve-Wiedemann Syndrome 1
Thin ribs, Low-set ears, Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, ... OMIM:601559
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Hearing impairment, Partial fusion of carpals, Carpal synostosis, Ge... OMIM:305620
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Oculomaxillofacial Dysostosis
Wide nasal bridge, Abnormality of the dentition, Tessier cleft, Abnormality of the nose, Underdev... ORPHA:1794
Cousin Syndrome
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti... OMIM:260660
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi... OMIM:616897
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft upper lip, Stomach cancer, Cleft palate OMIM:137215
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, S... ORPHA:1106
Osteogenesis Imperfecta, Type Ii
Thin ribs, Broad long bones, Bell-shaped thorax, Multiple prenatal fractures, Disproportionate sh... OMIM:166210
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
Osteoglophonic Dysplasia
Low-set ears, Hypoplastic scapulae, Broad thumb, Cryptorchidism, Broad foot, Bowing of the long b... OMIM:166250
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Micromelia, Long philtrum, Um... ORPHA:93298
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, P... ORPHA:3268
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Sprengel an... ORPHA:958
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short foot, Holopros... OMIM:269860
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Thanatophoric Dysplasia, Type I
5-minute APGAR score of 1, Neonatal death, Bowing of the long bones, Breech presentation, Short g... OMIM:187600
Achondrogenesis Type 1A
Severe short stature, Narrow chest, Micromelia, Long philtrum, Umbilical hernia, Abnormal enchond... ORPHA:93299
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con... ORPHA:199306
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Fibular bowing, Secondary hyperparathyroidism, Rickets, Bulging ... OMIM:264700
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Neonatal short-limb short stature, Wide anterior fontanel, ... OMIM:259420
Kyphomelic Dysplasia
Low-set ears, Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Ant... OMIM:211350
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Thin upper lip vermilion, Shor... ORPHA:2015
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Vertebral wedging, Intestinal mal... OMIM:617866
X-Linked Intellectual Disability, Siderius Type
Orofacial cleft, Broad nasal tip, Cleft upper lip ORPHA:85287
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Choanal atresia, Depressed nasal ridge, Tessier cleft, Low-set ears, Cleft u... OMIM:607597
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Marshall Syndrome
Low-set ears, Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Sen... OMIM:154780
Zechi-Ceide Syndrome
Wide nasal bridge, Cleft upper lip, Underdeveloped nasal alae, Stenosis of the external auditory ... OMIM:612916
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi... ORPHA:90652
Orofacial Cleft 14
Median cleft upper lip OMIM:615892
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Frontonasal Dysplasia 3
Wide nasal bridge, Low-set ears, Tessier cleft, Underdeveloped nasal alae, Posteriorly rotated ea... OMIM:613456
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Micromelia, Flar... OMIM:187601
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Shox-Related Short Stature
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Cubi... ORPHA:314795
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Giant platelets, Postnatal growth retardatio... OMIM:611209
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Hypopituitarism, Decreased circ... ORPHA:98813
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Hearing impairment, Cleft palate OMIM:120433
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Mitral regurgi... OMIM:271640
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Nasal reg... ORPHA:99772
Otopalatodigital Syndrome, Type Ii
Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Postnatal growth re... OMIM:304120
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Aplasi... OMIM:601812
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Hypoplastic iliac wing, Micro... OMIM:119600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Anencephaly 2
Median cleft upper lip, Bifid nose, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Burn-Mckeown Syndrome
Bifid uvula, Choanal atresia, Conductive hearing impairment, Bilateral choanal atresia, Cleft upp... OMIM:608572
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Abnormal ster... ORPHA:166016
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Achondrogenesis, Type Ib
Hypoplastic ilia, Neonatal short-limb short stature, Narrow chest, Micromelia, Umbilical hernia, ... OMIM:600972
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Micrognathia, Cryptorchidi... ORPHA:628
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Perching Syndrome
Respiratory distress, High palate, Dysphagia, Feeding difficulties OMIM:617055
Fibrochondrogenesis
Low-set ears, Hypoplastic scapulae, Bell-shaped thorax, Narrow mouth, Respiratory insufficiency, ... ORPHA:2021
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Campomelic Dysplasia
Low-set ears, Hearing impairment, Micrognathia, Bowing of the long bones, Talipes equinovarus, Hy... ORPHA:140
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Macrotia, Bilateral cleft palate OMIM:600776
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... OMIM:614091
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... ORPHA:2879
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Hand clenching, Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Cry... OMIM:611890
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Short pa... ORPHA:175
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... ORPHA:2563
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to gro... ORPHA:1263
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Low-set, posteriorly rotated ears, Microdontia... ORPHA:66625
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... OMIM:249710
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Thomas Syndrome
Cleft upper lip, Cleft palate ORPHA:3316
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of... OMIM:602849
Waardenburg Syndrome, Type 3
Wide nasal bridge, Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly ... OMIM:148820
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hearing impairment, Extramedullary hematopoiesis, Micrognathia, ... ORPHA:2886
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Elbow dislocation, Hearing impairment, Genu valgum, Bilateral single trans... OMIM:143095
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Respiratory distress, Micrognathia, Median cleft palate, Gingival ove... ORPHA:1832
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Enamel hypomineralization, Rickets... OMIM:307800
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol c... OMIM:615703
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... OMIM:613848
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, My... OMIM:252500
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... ORPHA:71526
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Low-set ears, Retrognathia, Postnatal growth retardation, Intrauterine growth retardation, Bulbou... OMIM:620113
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Marshall-Smith Syndrome
Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin... OMIM:602535
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Elevated circulating luteinizi... ORPHA:95699
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Orofaciodigital Syndrome Iii
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Tongue nodules, Bulbous nose, Microdontia,... OMIM:258850
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Low-set ears, Abnormality of the outer ear, Small hand, Broad thumb, Postnatal growth retardation... ORPHA:251028
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Atelosteogenesis, Type Ii
Micrognathia, Talipes equinovarus, Short greater sciatic notch, Flat acetabular roof, Cervical ky... OMIM:256050
Infantile Sialic Acid Storage Disease
Osteopenia, Abnormal foot morphology, Congestive heart failure, Ascites, Anteverted nares, Gingiv... OMIM:269920
Endocrine-Cerebroosteodysplasia
Low-set ears, Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Cryptorchidis... OMIM:612651
Ruvalcaba Syndrome
Small hand, Synostosis of carpal bones, Narrow mouth, Cryptorchidism, Short metacarpal, Short nos... ORPHA:3121
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Wide nasal bridge, Depressed nasal ridge, Low-set ears, Underdeveloped nasal alae, Intestinal mal... ORPHA:77300
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Achondrogenesis, Type Ii
Microretrognathia, Disproportionate short-limb short stature, Edema, Long philtrum, Broad long bo... OMIM:200610
2q33.1 deletion syndrome
High palate, Feeding difficulties in infancy, Cleft palate DECIPHER:51
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Auriculocondylar Syndrome 4
Hearing impairment, Question mark ear, Apnea, Micrognathia, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Cornelia De Lange Syndrome 1
Low-set ears, Cutis marmorata, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Hi... OMIM:122470
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Intercrural pterygium, Talipes calcaneovalgus, Exostosis of the external auditory c... OMIM:265000
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ... ORPHA:289157
Weismann-Netter Syndrome
Severe short stature, Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing... OMIM:112350
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Tooth agenesis, Open bi... ORPHA:1248
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Increased nuchal transluce... ORPHA:295
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Hypoplastic scapulae, Finger syndactyly, Hearing impairment, Micrognathia, 2-5 finger s... OMIM:308050
W Syndrome
Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Clinodactyly, Radial bowing,... ORPHA:2804
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... OMIM:610915
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... OMIM:201250
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Orofaciodigital Syndrome Vi
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory... OMIM:277170
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Growth delay, Bulging epiphyses, Rickets, Bone pain, Enlargement... OMIM:600081
Skraban-Deardorff Syndrome
Depressed nasal bridge, Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilio... OMIM:617616
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Lethal Congenital Contracture Syndrome 10
Low-set ears, Overlapping fingers, Micrognathia, Talipes equinovarus, High palate, Femoral bowing... OMIM:617022
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol... ORPHA:2839
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Orofacial cleft, Widely-spaced maxillary central incisors... OMIM:601349
Mmep Syndrome
Median cleft upper lip, Orofacial cleft, Mandibular prognathia ORPHA:3434
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Mesomelia-Synostoses Syndrome
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Short foot, Partial fusion of pr... OMIM:600383
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Abnormal rib morpholo... OMIM:602196
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced ... OMIM:616050
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab... ORPHA:3344
Cleft Lip-Retinopathy Syndrome
Non-midline cleft of the upper lip ORPHA:1995
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Pes planus, Flattened epiphysis, High palate, Dislocated radial he... OMIM:612350
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:616100
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Narrow mouth, Malar flattening, Abnor... ORPHA:2412
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo... ORPHA:1277
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Achondrogenesis
Severe short stature, Narrow chest, Micromelia, Long philtrum, Umbilical hernia, Abnormal enchond... ORPHA:932
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Congenital Insensitivity To Pain With Severe Intellectual Disability
Talipes equinovalgus, Osteomyelitis, Prominent nose, Micrognathia, Oligohydramnios, Tibial bowing... ORPHA:453510
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Cryptorchidism, Respiratory insufficiency, Low-set, posteriorly rotated ears, ... ORPHA:2311
Steel Syndrome
Wide nasal bridge, Carpal synostosis, Lumbar hyperlordosis, Pes cavus, Limited elbow extension, A... OMIM:615155
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Pfeiffer Syndrome
Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the ... ORPHA:710
Developmental And Epileptic Encephalopathy 96
Neonatal respiratory distress, Hydrops fetalis, Death in infancy OMIM:619340
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Low-set ears, Cleft upper lip, Bilateral cleft palate, Bilateral cleft lip OMIM:601357
Grant Syndrome
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Orofacial Cleft 13
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia OMIM:613857
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Atresia of the external auditory canal, ... OMIM:146510
Genitopalatocardiac Syndrome
Low-set ears, Micrognathia, Cleft palate, Cleft upper lip OMIM:231060
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior synechiae of the anterior chamber, Band keratopathy, Ocular anterior segment dysgenesis,... OMIM:614195
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... OMIM:157980
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait disturbance ORPHA:2398
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Op... ORPHA:1507
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Median cleft upper lip, High palate, Cleft palate OMIM:300484
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Abnormal social behavior, Hyperactivity ORPHA:436151
Fetal Akinesia Deformation Sequence 4
Low-set ears, Wide nasal bridge, Arthrogryposis multiplex congenita, Retrognathia, Fetal pleural ... OMIM:618393
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Split hand/foot malformation 1 (SHFM1)
Median cleft upper lip, Cleft palate, Sensorineural hearing impairment DECIPHER:46
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Severe short stature, Wide nasal bridge, Depressed nasal bridge, Pectus carinatum,... OMIM:313420
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, ... OMIM:309350
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Pelviscapular Dysplasia
Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of ... ORPHA:93333
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Dental malocclusion, Mandibular osteomyelitis... ORPHA:83451
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Low-set ears, Natal tooth, Distal shortening of limbs, Micrognathia, Protru... ORPHA:50945
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Turnpenny-Fry Syndrome
Low-set ears, Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Prominent nasal tip, High ... OMIM:618371
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, He... OMIM:612526
Atelosteogenesis Type Ii
Low-set ears, Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus def... ORPHA:56304
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Intellectual Disability, Wolff Type
Wide nasal bridge, Microretrognathia, Thick lower lip vermilion, Bulbous nose, Abnormal intestine... ORPHA:3080
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Cryptorchidism, Broad foot, Talipes, Pes planus, Everted lower lip... ORPHA:915
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Acrorenal-Mandibular Syndrome
Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi... OMIM:200980
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Abnormality of the dentition, Conical tooth, Abnormal antihelix morphology, Solita... ORPHA:952
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Micrognathia, Patell... ORPHA:3103
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Recurrent otitis media, Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal... OMIM:608940
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Short man... OMIM:141400
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Wide nasal bri... OMIM:617102
Frontofacionasal Dysplasia
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, D... ORPHA:1791
Meckel Syndrome, Type 8
Low-set ears, Depressed nasal ridge, Abdominal distention, Cleft upper lip, Short nose, Cleft palate OMIM:613885
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Fibular bowing, Rickets, Bulging of the costochondral junction, ... OMIM:241530
Ulbright-Hodes Syndrome
Thin ribs, Low-set ears, Postnatal growth retardation, Fibular aplasia, Micrognathia, Narrow mout... ORPHA:3404
Diprosopus
Abnormal pinna morphology, Non-midline cleft of the upper lip, Cleft palate, Abnormality of the nose ORPHA:1681
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Low-set ears, Abnormali... ORPHA:163966
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Respiratory insufficiency, Low-set, posteriorly rotated ears, Antever... ORPHA:3191
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Natal tooth, Hypoplastic iliac wing, Genu valgum, Cryptorchidism, Tal... OMIM:225500
Unilateral Ocular Duplication
Median cleft upper lip, Midline facial cleft, Cleft palate ORPHA:3374
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Schneckenbecken Dysplasia
Hypoplastic scapulae, Cryptorchidism, Diaphyseal undertubulation, Hypoplastic ilia, Disproportion... ORPHA:3144
Craniodiaphyseal Dysplasia
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Conductive hearing impairme... ORPHA:1513
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Arthrogryposis, Distal, Type 3
Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Cryptorchidism, Talipes equinovarus, ... OMIM:114300
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hearing impairment, Recurrent otitis media, Neonatal death, Breech presentation, Disproportionate... OMIM:616482
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Postnatal growth retardation, Micrognathia, Cryptorchidism, Broad foot, Promi... ORPHA:439822
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
Metaphyseal Dysplasia, Spahr Type
Disproportionate short stature, Metaphyseal sclerosis, Genu valgum, Bowing of the legs, Osteochon... OMIM:250400
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Limitation of joint mobility, Finger syndactyly, Hearing impairment, Micrognathia, ... ORPHA:2990
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Tarsal-Carpal Coalition Syndrome
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr... OMIM:186570
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Polyhydramnios, Hydrops fetalis OMIM:619462
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Osteopenia, Short 1st metaca... OMIM:620076
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Abnormal helix morphology, Synostosis of carpal bones, Finger syndactyly, K... ORPHA:1005
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,... OMIM:608154
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Malan Syndrome
Mandibular prognathia, Retrognathia, Cutis marmorata, Gingival overgrowth, Narrow mouth, Hyperpla... OMIM:614753
Geroderma Osteodysplasticum
Periodontitis, Beaking of vertebral bodies, Irregular vertebral endplates, Hyperextensibility of ... OMIM:231070
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Malar flattening, Cleft palate OMIM:300261
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Apert Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Sensorineural hearing impairment, Aplasia/Hypopla... ORPHA:87
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Muenke Syndrome
High, narrow palate, Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Malar fl... ORPHA:53271
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Abnormality of the outer ear, Hypoplasia of the maxilla, Absent tragus, Conductive ... ORPHA:79113
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Glass Syndrome
Low-set ears, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Long nose, High pa... OMIM:612313
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Disproportionate short stature, Flared metaphysis, Small epiphyses, Femora... ORPHA:93356
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Scarf Syndrome
Wide nasal base, Pectus carinatum, Abnormal form of the vertebral bodies, Long philtrum, Umbilica... ORPHA:3134
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Epiphyseal Dysplasia, Multiple, 1