banner
Genes Phenotypes Help, News, Blog

Gene: Zeb1 MGI:1344313

Log in to follow
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:
Zfhx1a,  3110032K11Rik,  [delta]EF1,  Nil2,  Tcf18,  MEB1,  AREB6,  Tw,  Tcf8,  Zfx1a,  Zfhep,  ZEB

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating total IgM, Decreased circulating IgG level, Lym... OMIM:247630
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619924
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... ORPHA:401942
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Cleft Lip With Or Without Cleft Palate
Recurrent otitis media, Feeding difficulties, Submucous cleft of soft and hard palate, Non-midlin... ORPHA:1991
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Oligodontia, Abnormality of the inner ear ORPHA:3230
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Immunodeficiency 40
Lymphopenia OMIM:616433
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... ORPHA:71529
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing... OMIM:304120
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Feeding difficulties, Cleft palate, Aspi... ORPHA:141152
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... OMIM:300400
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, 11 pairs of ribs, Rhizomeli... OMIM:108720
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Schneckenbecken Dysplasia
Cleft palate, Platyspondyly, Nonimmune hydrops fetalis, Short nose, Ovoid vertebral bodies, Umbil... OMIM:269250
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Depressed nasal bridge, Platyspondyly, Micromelia, Hypoplasia of the capital femora... ORPHA:85166
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
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
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Cleft ala nasi, Non-midline cleft lip, Underdeveloped nasal alae, Wide nasal ... ORPHA:2007
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Fibrochondrogenesis 1
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Platyspondyly, Rhizomelia, Short... OMIM:228520
Multiple Epiphyseal Dysplasia Type 4
High palate, Abnormal pinna morphology, Short metacarpal, Accelerated skeletal maturation, Cleft ... ORPHA:93307
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Cleft pala... OMIM:108721
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Micromelia, Abnormalit... ORPHA:2496
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Delaye... OMIM:210720
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Platyspondy... ORPHA:1427
Femoral-Facial Syndrome
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Short nose, Sprengel anoma... ORPHA:1988
Facial Clefting, Oblique, 1
Cleft upper lip, Facial cleft, Cleft palate OMIM:600251
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Feeding difficulties in infancy, Upper airway obstructi... OMIM:261800
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Broad nasal... OMIM:239800
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping shoulders, Delay... ORPHA:1452
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Platyspondyly, Rhizomelia, Severe platyspondyly, Ovoid vertebral bodies, Metaphys... OMIM:608940
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Accelerated skeletal maturation, Platyspondyly, Broad finger, G... OMIM:619636
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Otopalatodigital Syndrome, Type I
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Delay... OMIM:311300
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Kniest Dysplasia
Enlarged joints, Respiratory distress, Pectus excavatum, Cleft palate, Depressed nasal bridge, Pl... OMIM:156550
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Prominence of the premaxilla, Broad nasal tip, Long philtrum, Deep p... OMIM:137550
Telecanthus
Bilateral cleft lip and palate, Anodontia OMIM:187350
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Broad ribs, Scl... OMIM:224300
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty ORPHA:140941
Otopalatodigital Syndrome Type 1
Cleft palate, Depressed nasal bridge, Sandal gap, Bowing of the long bones, Elbow dislocation, Sh... ORPHA:90650
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Van Den Ende-Gupta Syndrome
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Overfolded helix, Femoral bowing, ... OMIM:600920
Palant Cleft Palate Syndrome
Bulbous nose, Exaggerated cupid's bow, Cleft palate OMIM:260150
Syngnathia
Cleft palate OMIM:119550
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Narrow chest, Sensorineural hearing impairment, Cleft palate, Short femur, Glossoptosis, Femoral ... ORPHA:440354
Cleft Velum
Conductive hearing impairment, Nasal regurgitation, Velopharyngeal insufficiency, Poor suck, Hypo... ORPHA:99772
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Intestinal malr... ORPHA:3035
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Short phi... OMIM:186500
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Accelerated skeletal maturation, Malar flattening, Short r... OMIM:215045
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Single transverse palmar crease, Short nose, S... OMIM:206920
Cousin Syndrome
Hydrocephalus, Cleft palate, Microtia, first degree, Rhizomelia, Absent proximal finger flexion c... OMIM:260660
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Wide mouth, Pectus excavatum, Triangular mouth, Hypoplastic sacrum, Hypoplasia o... OMIM:268310
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... OMIM:250215
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond... OMIM:156530
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... ORPHA:93351
X-Linked Intellectual Disability, Abidi Type
Protruding ear, Cleft palate, Non-midline cleft lip, Hearing impairment, Prominent nasal bridge ORPHA:85273
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Cariou... OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Thin b... OMIM:264700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Anophthalmia Plus Syndrome
Cleft palate, Abnormal nasal morphology, Low-set, posteriorly rotated ears, Bilateral cleft lip a... ORPHA:1104
Greenberg Dysplasia
Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge, Barrel-shape... OMIM:215140
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... OMIM:305620
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Hydrocephalus, Respiratory distress, Apnea, Clef... OMIM:114290
Ophthalmomandibulomelic Dysplasia
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Abnormal thora... OMIM:164900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Achondrogenesis Type 1B
Narrow chest, Talipes equinovarus, Severe short stature, Thickened nuchal skin fold, Micrognathia... ORPHA:93298
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Miscarriage, Cleft palate, Micromelia, Anisospondyly, Pterygium, Encephalocele, Sh... ORPHA:1865
Tarp Syndrome
High palate, Pectus excavatum, Short sternum, Cleft palate, Hypoplasia of the radius, Cutaneous s... OMIM:311900
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Barrel-shaped chest, Microm... OMIM:200600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Platyspondyly, Short nose, Intrauterine growth retardation, Thoracic hy... OMIM:616897
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Narrow mouth, Conductive hearing impairment, Talipes equinov... OMIM:602471
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Severe short stature, Multiple rib fractures, Thickened nuchal... ORPHA:93299
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Disproportionate short-t... ORPHA:93314
Disorganization, Mouse, Homolog Of
Cleft upper lip, Sensorineural hearing impairment, Cleft palate OMIM:223200
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Syno... ORPHA:2741
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Disproport... OMIM:259420
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Pursed lips, Femoral bowing, Ulnar deviation of finger, Single transverse... OMIM:601559
Perching Syndrome
High palate, Dysphagia, Respiratory distress, Feeding difficulties OMIM:617055
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Oculomaxillofacial Dysostosis
Cleft palate, Abnormality of the dentition, Micrognathia, Abnormality of the nose, Facial cleft, ... ORPHA:1794
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Constipation, Feeding difficulties, Depressed nasal bridge, Micrognath... OMIM:617616
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... OMIM:617885
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Disproportionate short-limb short stature, Convex nasal ridge... OMIM:166210
Renal Dysplasia-Limb Defects Syndrome
High palate, Respiratory distress, Abnormal pinna morphology, Short sternum, Hypoplasia of the ra... OMIM:266910
Intestinal Dysmotility Syndrome
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... OMIM:620045
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Macrodontia, Abnormality of the... ORPHA:1106
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... ORPHA:240
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Short stature, Abnormality of the dentition, Scoliosis, Pectus ca... ORPHA:3268
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619752
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Cenani-Lenz Syndrome
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... ORPHA:3258
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Vertebral wedging, Postaxial polydactyly, Short... OMIM:617866
Orofacial Cleft 13
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate OMIM:613857
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... ORPHA:96334
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:618394
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... OMIM:607326
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Acro-Renal-Mandibular Syndrome
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... ORPHA:958
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Clinoda... OMIM:154780
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Abnormal pinna morphology, Anencephaly, Lobulated tongue, Median cleft lip and pal... OMIM:269860
Osteoglophonic Dysplasia
High palate, Respiratory distress, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Platy... OMIM:166250
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... ORPHA:199306
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:276
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Kyphomelic Dysplasia
Cleft palate, Femoral bowing, Depressed nasal bridge, Platyspondyly, Micromelia, Pterygium, Dumbb... OMIM:211350
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Broad nasal tip, Oral cleft ORPHA:85287
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Meckel Syndrome, Type 8
Cleft upper lip, Abdominal distention, Cleft palate, Depressed nasal ridge, Short nose, Low-set ears OMIM:613885
Shox-Related Short Stature
Forearm undergrowth, High palate, Tibial bowing, Short stature, Micrognathia, Scoliosis, Genu val... ORPHA:314795
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Thanatophoric Dysplasia, Type I
Hydrocephalus, Champagne cork sign, Femoral bowing, Platyspondyly, Hypoplastic pelvis, Severe pla... OMIM:187600
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Otopalatodigital Syndrome Type 2
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short nose, Bowin... ORPHA:90652
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Depressed nasal ridge, Choanal atresia, Facia... OMIM:607597
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating total IgM, B lymphocyt... OMIM:301081
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Cleft palate, Femoral bowing, Depressed nasal bridge, 11 pair... ORPHA:140
Achondrogenesis, Type Ib
Narrow chest, Neonatal short-limb short stature, Malar flattening, Short ribs, Hypoplastic ilia, ... OMIM:600972
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Frontonasal Dysplasia 3
Cleft palate, Low-set, posteriorly rotated ears, Facial cleft, Underdeveloped nasal alae, Wide na... OMIM:613456
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Crane-Heise Syndrome
Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Cleft palate, Abnormally os... ORPHA:1512
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Otofacioosseous-Gonadal Syndrome
Narrow chest, Carpal synostosis, Low-set ears, Pectus excavatum, Talipes equinovarus, Sensorineur... OMIM:601976
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
Short Rib-Polydactyly Syndrome
Cleft palate, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones... ORPHA:1505
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Boomerang Dysplasia
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... ORPHA:1263
Cleidocranial Dysplasia 1
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... OMIM:119600
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure, Intrauterine growth retardation, Premature birth, Congestive... OMIM:301021
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate OMIM:615731
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Platyspondyly, 11 pa... OMIM:271640
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Fibrochondrogenesis
Cleft palate, Depressed nasal bridge, Micromelia, Broad ribs, Abnormal metaphysis morphology, Sho... ORPHA:2021
Tarp Syndrome
Abnormal antihelix morphology, Apnea, Pectus excavatum, Short sternum, Cleft palate, Single trans... ORPHA:2886
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... OMIM:600802
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Low-set ears, Talipes equinovarus, Hand clenching, Areflexia of lower limb... OMIM:611890
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Tricuspid stenosis, Barrel-shaped chest, Hypoplasia of the capital femoral epiphysis... OMIM:143095
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... ORPHA:293964
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Micromelia, Aplasia/Hypoplasia... ORPHA:2879
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Abnormal pinna morphology, Talipes equinovarus, Flexion contracture, Micrognathia, Over... OMIM:618291
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... OMIM:614091
Cartilage-Hair Hypoplasia
Accelerated skeletal maturation, Depressed nasal ridge, Abnormally ossified vertebrae, Depressed ... ORPHA:175
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... OMIM:184260
Auriculocondylar Syndrome 3
Glossoptosis, Stenosis of the external auditory canal, Retrognathia, Micrognathia, Bilateral cond... OMIM:615706
Hydrocephalus With Associated Malformations
Tibial bowing, Hydrocephalus, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal f... OMIM:236640
Gonadal dysgenesis, xy type, with associated anomalies
Cleft upper lip, Short columella, Oral cleft OMIM:233430
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... ORPHA:1836
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... ORPHA:93323
Diastrophic Dysplasia
Abnormal clavicle morphology, Cleft palate, Overfolded helix, Depressed nasal bridge, Micromelia,... ORPHA:628
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Abnormal bone ossification, Short st... ORPHA:2563
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Retrognathia, Micrognathia, Gingival fibromatosis, Med... ORPHA:1832
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Abnormality of the ear, Facial cleft, Macrotia OMIM:600776
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased... OMIM:614878
Anencephaly 2
Median cleft palate, Bifid nose, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Slender finger, Cleft palate, Osteopenia, Abnormality of the dentition, Short philtr... ORPHA:251028
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Thin... ORPHA:2015
Marshall-Smith Syndrome
High palate, Apnea, Hydrocephalus, Pectus excavatum, Short sternum, Slender finger, Prominent fin... OMIM:602535
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress ORPHA:718
Waardenburg Syndrome, Type 3
Sensorineural hearing impairment, Carpal synostosis, Premature graying of hair, Joint contracture... OMIM:148820
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat... OMIM:274000
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Mucolipidosis Ii Alpha/Beta
Wide mouth, Pectus excavatum, Craniosynostosis, Osteopenia, Depressed nasal bridge, Bullet-shaped... OMIM:252500
Burn-Mckeown Syndrome
Cleft upper lip, Conductive hearing impairment, Narrow mouth, Protruding ear, Cleft palate, Thin ... OMIM:608572
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:600081
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... OMIM:249710
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Talon cusp, Cleft palate, Brachydactyly, Syndactyly, Microdontia, Radioulnar s... OMIM:605282
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Narrow mouth, Depressed nasal ridge, Prominence of the premaxilla, Ma... ORPHA:2412
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Orofacial Cleft 14
Median cleft lip OMIM:615892
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Thin b... ORPHA:289157
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Infantile Sialic Acid Storage Disease
High palate, Metaphyseal irregularity, Hydrocephalus, Gingival overgrowth, Vacuolated lymphocytes... OMIM:269920
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Rocker bottom foot, Clinodactyly of the 5th finger, Talip... OMIM:619110
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Increased proportion of gamma... OMIM:619774
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Zechi-Ceide Syndrome
Cleft upper lip, Cleft palate, Malar flattening, Stenosis of the external auditory canal, Oligodo... OMIM:612916
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Depre... OMIM:311450
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Orofaciodigital Syndrome Iii
Kyphosis, Bulbous nose, Pectus excavatum, Short sternum, Supernumerary tooth, Bifid tongue, Bifid... OMIM:258850
Muenke Syndrome
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Sensorineur... OMIM:602849
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Calvarial hyperostosis, Scoliosis, Fibular bowing, Lateral femora... OMIM:112350
Ruvalcaba Syndrome
Cone-shaped epiphysis, Micromelia, Pectus carinatum, Short nose, Intrauterine growth retardation,... ORPHA:3121
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Down-sloping shoulders,... OMIM:265000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites, Intrauterine growth retardation, Increased... ORPHA:295
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Achondrogenesis
Narrow chest, Severe short stature, Thickened nuchal skin fold, Micrognathia, Hydrops fetalis, Mi... ORPHA:932
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Otitis media, Hypo... OMIM:122470
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Diprosopus
Abnormality of the nose, External ear malformation, Cleft palate, Non-midline cleft lip ORPHA:1681
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum... ORPHA:93316
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Pectus excavatum, High, narrow palate, Cleft palate, Camptodactyl... ORPHA:957
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... OMIM:112910
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Hydrocephalus, Bulbous nose, Abnormal pinna morphology, Elbow anky... ORPHA:95699
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Cleft palate, Depressed nasal bridge, Platyspondyly, Micromeli... OMIM:256050
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Accelerated skeletal maturation, Cleft palate, Carious teeth, Genu valgum, Small epi... OMIM:618363
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Puerto Rican Infant Hypotonia Syndrome
High palate, Narrow palate, Constipation, Abdominal distention, Long philtrum, Open mouth, Chroni... OMIM:600096
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... ORPHA:2639
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Acromesomelic Dysplasia 2C
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... OMIM:201250
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... ORPHA:35078
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatomegaly, Sple... OMIM:616100
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increased intraabdom... ORPHA:79085
Intellectual Disability, Wolff Type
Bulbous nose, Microretrognathia, Hypoplastic superior helix, Macrotia, Oral cleft, Non-midline cl... ORPHA:3080
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Depressed nasal bridge, Congenital hip dislocation, Single transverse palmar crease, Hypoplastic ... OMIM:308050
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Severe short stature, Abnormal morpholo... ORPHA:3344
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Abnormality of the nares, Long philtrum, Microdontia, ... ORPHA:66625
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc... OMIM:616050
Chromosome 16P13.3 Duplication Syndrome
Short toe, Pectus excavatum, Bulbous nose, Protruding ear, Malar flattening, Pes cavus, Short pha... OMIM:613458
Temple Syndrome
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Short philtrum, Intrauterine gr... OMIM:616222
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal r... OMIM:602196
Pelvis-Shoulder Dysplasia
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Absent proximal finger flexion creases, T... ORPHA:2839
Osteogenesis Imperfecta, Type Viii
Femoral bowing, Osteopenia, Decreased calvarial ossification, Barrel-shaped chest, Platyspondyly,... OMIM:610915
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Depressed nasal bridge, Platyspondyly, Hyposegmentation of neutrophil nuclei, Bro... OMIM:618019
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Osteopenia, Depressed nasal bridge, Platyspondyly, Delayed eruption of teeth, Tapere... OMIM:612350
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Macrotia, Non-... ORPHA:1406
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:617102
Developmental And Epileptic Encephalopathy 96
Neonatal respiratory distress, Hydrops fetalis, Death in infancy OMIM:619340
W Syndrome
Radial bowing, Broad nasal tip, Depressed nasal bridge, Pes cavus, Camptodactyly, Hypoplasia of t... ORPHA:2804
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Broad nasal tip, Pectus carinatum, Disproportionate short-trunk short stature, Shor... OMIM:272460
Morquio Syndrome C
Corneal opacity OMIM:252300
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, High palate, Respiratory distress, Abnormal pinna morphology, Sho... ORPHA:3404
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Congenital Insensitivity To Pain With Severe Intellectual Disability
Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Talipes equinovalgus, Congenital... ORPHA:453510
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly, Long thorax, Mesomelia, Abnormal... ORPHA:1277
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders, Wormian bones OMIM:138930
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Absence of lymph node... ORPHA:277
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Severe short stature, Hypere... OMIM:313420
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Autosomal Recessive Spondylocostal Dysostosis
Cleft palate, Depressed nasal bridge, Umbilical hernia, Intrauterine growth retardation, Vertebra... ORPHA:2311
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Cleft palate, Delayed erupt... OMIM:309350
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Depressed nasal bridge, Platyspondyly, Rhizomelia, Abnormal epip... ORPHA:50945
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait disturbance ORPHA:2398
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Turnpenny-Fry Syndrome
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Microdontia, Tapered ... OMIM:618371
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... OMIM:226440
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Pfeiffer Syndrome
High palate, Clinodactyly of the 5th finger, Short stature, Short philtrum, Synostosis of carpal ... ORPHA:710
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Single t... ORPHA:915
Phenobarbital Embryopathy
Malar flattening, Abnormal nasal base, Unilateral cleft lip, Mandibular prognathia, Low-set ears ORPHA:1919
Pelviscapular Dysplasia
Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Short femur, Short stature, Hy... ORPHA:93333
Roberts Syndrome
High palate, Cleft palate, Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper l... ORPHA:3103
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Oral cleft ORPHA:3434
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Cutis marmorata, Long philtrum, Del... OMIM:157980
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... ORPHA:435660
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Convex nasal ridge, Short stature, Thin vermilion... OMIM:156510
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:241530
Arthrogryposis, Distal, Type 3
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Congenital hip dislocation, ... OMIM:114300
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Cleft palate, Short mandibular rami, Microtia, Oral cleft, Atresia... OMIM:141400
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Abnormal pinna morphology, Depressed nasal ridge, Intestinal m... ORPHA:77300
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Platyspondyly, Biconcav... ORPHA:93315
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Abnormality of the dentition, Short philtrum, Depressed nasal bridg... ORPHA:1507
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Radioulnar synostosis, Elbow dislocation, Anterior vertebral fusion, Microtia, Short humerus, Sho... OMIM:171480
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Hydrocephalus, Low-set ears, Thin ribs, Short stature, Depressed nasal ridge, Microgn... ORPHA:163966
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Type II diabetes mellitus, Short stature, Micrognathia, Respiratory insufficiency, Bila... ORPHA:3191
Acrorenal-Mandibular Syndrome
High palate, Absent nipple, Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplas... OMIM:200980
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Pectus carinatum, Genu valgum, Short long bone, Cleft upper lip, Aceta... OMIM:225500
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Cleft palate, Everted lower lip vermilion, Micrognathia, Oral synechia ORPHA:2016
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula, Anteverted nares OMIM:615942
Maxillonasal Dysplasia
Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, Depressed nasal bridge, Abnormali... ORPHA:1248
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Accelerated skeletal maturation, Elevated circulating parathyroid hormone level, D... ORPHA:439822
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Cryptorchidism, Short sternum OMIM:184800
Schneckenbecken Dysplasia
Accelerated skeletal maturation, Cleft palate, Micromelia, Abnormal metaphysis morphology, Dumbbe... ORPHA:3144
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu ... ORPHA:56304
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... OMIM:186570
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Short stature, Stenosis of the external auditory canal, Depressed ... ORPHA:1513
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Apert Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Dela... OMIM:101200
Lethal Congenital Contracture Syndrome 10
Narrow chest, High palate, Thoracic scoliosis, Talipes equinovarus, Narrow palate, Adducted thumb... OMIM:617022
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... OMIM:108120
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosi... ORPHA:2790
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Muenke Syndrome
Sensorineural hearing impairment, Carpal synostosis, Hydrocephalus, High, narrow palate, Malar fl... ORPHA:53271
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Galactosialidosis
Corneal opacity ORPHA:351
Triopia
Median cleft lip, Cleft palate, Midline facial cleft ORPHA:3374
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Joint stiffness, Narrow mouth, Narrow palate, Abnormal hip bone mo... ORPHA:1323
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment, Symphalangism affecting the phalanges of the toes, Symphalangism o... ORPHA:3246
Achondroplasia
Limited hip extension, Bowing of the legs, Hydrocephalus, Neonatal short-limb short stature, Lumb... OMIM:100800
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Hepatomegaly, Elevated circulating creatine kinase concentratio... OMIM:610717
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Abnormality of the ear, Hypodontia, Cleft palate, Microdontia, Abnorm... OMIM:225000
Acromesomelic Dysplasia 1
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... OMIM:602875
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology, Joint stiffness, Vertebral segmentation defect, Clinodactyly o... ORPHA:1005
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sensorineural hearing impairment, Progeroid facial appearance, Slender long bones with narrow dia... OMIM:608154
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Trisomy 1Q
Anal atresia, Hydrocephalus, Narrow mouth, Microretrognathia, Low-set ears, Cleft palate, Arachno... ORPHA:261344
Acrofacial Dysostosis, Weyers Type
Abnormal antihelix morphology, Hypodontia, Abnormality of the dentition, Advanced eruption of tee... ORPHA:952
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:311895
Pallister-Hall Syndrome
Cleft palate, Decreased circulating cortisol level, Hemivertebrae, Depressed nasal bridge, Y-shap... OMIM:146510
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Sensorineural hearing impairment, Aplasia/Hypo... OMIM:611377
Wt Limb-Blood Syndrome
Hypoplastic anemia, Sensorineural hearing impairment, Clinodactyly of the 5th finger, Absent thum... OMIM:194350
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Bulbous nose, Cleft palate, Platyspondyly, Premature osteoarthritis, Large tarsa... OMIM:215150
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... OMIM:611702
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Achondrogenesis, Type Ii
Disproportionate short-limb short stature, Cleft palate, Short ribs, Barrel-shaped chest, Hydrops... OMIM:200610
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Abnormal pinna mor... OMIM:614669
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Oral cleft, Mandibular prognathia, Widely-spaced maxillary central... OMIM:601349
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Hypoplastic nasal septum, Mi... ORPHA:40366
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Symphalangism affecting t... ORPHA:2990
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Geroderma Osteodysplasticum
Progeroid facial appearance, Femoral bowing, Osteopenia, Platyspondyly, Biconcave vertebral bodie... OMIM:231070
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Small epiphyses, Ovoid vertebral bodies, Epiphyseal dysplasia, Joint stiffness, Disp... OMIM:132400
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Apert Syndrome
Hydrocephalus, Ovarian neoplasm, Cleft palate, Depressed nasal bridge, Micromelia, Delayed erupti... ORPHA:87
Microphthalmia, Isolated, With Coloboma 4
Microcornea OMIM:251505
Chylous Ascites
Neoplasm, Lymphedema, Ascites ORPHA:1160
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide mouth, Pectus excavatum, Short metacarpal, Depressed nasal bridge, Platyspondyly, Small epip... OMIM:611717
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Vertebral segmen... OMIM:609813
Baller-Gerold Syndrome
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagit... OMIM:218600
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Accelerated skeletal maturation, Macroglossia, Micrognathia, ... ORPHA:1423
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Low-set ears, Cleft palate OMIM:231060
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abn... ORPHA:1801
Frontofacionasal Dysplasia
Depressed nasal ridge, Cleft palate, Dimple on nasal tip, Depressed nasal bridge, Bifid nasal tip... ORPHA:1791
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... OMIM:307800
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Tricuspid regurgitation, P... ORPHA:2414
Trisomy 13
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... ORPHA:3378
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
High palate, Joint stiffness, Tibial bowing, Narrow mouth, Pursed lips, Flexion contracture, Abse... OMIM:245160
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Severe short stature, Tooth malposition, High, narrow palate, Fail... ORPHA:3238
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Coxa magna, Accelerated bone age after puberty, Delayed skeletal maturation, Long phi... OMIM:190351
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Narrow mouth, Severe short stature, Short metacarpal, Bulbous ... OMIM:102370
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Mulibrey Nanism