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

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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141

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
Megalocornea
Megalocornea OMIM:249300
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
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Facial Paresis, Hereditary Congenital, 1
Decreased corneal reflex OMIM:601471
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... ORPHA:401942
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, R... OMIM:613493
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Deafness-Oligodontia Syndrome
Oligodontia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Dermoids Of Cornea
Corneal opacity OMIM:304730
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Short me... OMIM:304120
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Narrow chest, Short distal phalanx of finger, Abnormality of the... ORPHA:85166
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Feeding difficulties, Recurrent otitis media, Non-midline cleft lip, Su... ORPHA:1991
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movem... ORPHA:93320
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Scoliosis, Short metatarsal, Bilateral external ear deformity, U... ORPHA:93307
Fibrochondrogenesis 1
Hydrops fetalis, Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, T... OMIM:228520
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Atelosteogenesis, Type I
Polyhydramnios, Cryptorchidism, Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platy... OMIM:108720
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Narrow mouth, Bulbous nose, Abnormality of the metacarpal bones,... ORPHA:2496
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Scoliosis, Cervical segmentation defect, Elbow dislocati... OMIM:108721
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Narrow chest, Postnatal growth retardation, Short distal phalanx of finger, Ty... OMIM:210720
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Schneckenbecken Dysplasia
Anterior rib cupping, Polyhydramnios, Lateral clavicle hook, Advanced tarsal ossification, Metaph... OMIM:269250
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Otospondylomegaepiphyseal Dysplasia
Polyhydramnios, Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Sensori... ORPHA:1427
Campomelic Dysplasia
Polyhydramnios, Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Hydrocephalus, ... OMIM:114290
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Oral-pharyngeal dysphagia, Aspiration pneu... ORPHA:99772
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Oral cleft, Aplasia/Hypoplasia of the tibia, Abnormality of the ribs, ... ORPHA:1988
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas... OMIM:611926
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Cleidocranial Dysplasia
Open bite, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Scoliosis, Sleep apne... ORPHA:1452
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphos... OMIM:223800
Chondrodysplasia, Blomstrand Type
Accelerated skeletal maturation, Squared iliac bones, Polyhydramnios, Hydrops fetalis, Advanced t... OMIM:215045
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Postnatal growth retardation, Joint ... OMIM:608940
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Deep phi... OMIM:137550
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Intestinal malrotation, Aqueductal stenosis, Tibial bowi... ORPHA:3035
Stuve-Wiedemann Syndrome
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Respiratory i... OMIM:601559
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Dysosteosclerosis
Oligodontia, Delayed closure of the anterior fontanelle, Narrow chest, Natal tooth, Increased sus... OMIM:224300
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Underdeveloped nasal alae, Cleft ala nasi, Non-midline cleft lip, Wide nasal ... ORPHA:2007
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Otopalatodigital Syndrome Type 1
Oligodontia, Elbow dislocation, Hypoplastic frontal sinuses, Abnormality of the metacarpal bones,... ORPHA:90650
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Sandal gap, High palate, Depressed nasal bridge, Postaxial hand pol... OMIM:206920
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Syngnathia
Cleft palate OMIM:119550
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Narrow chest, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long b... ORPHA:440354
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Broad nasal tip, Elbow dislocation, Rhizomeli... ORPHA:166016
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Achondrogenesis Type 1B
Polyhydramnios, Long philtrum, Short thorax, Disproportionate short stature, Hydrops fetalis, Thi... ORPHA:93298
Pierre Robin Syndrome
Pierre-Robin sequence, Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cle... OMIM:261800
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Microgna... OMIM:260660
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Accelerated skeletal maturation, Scoliosis, Craniosynostosis, Short phalanx ... OMIM:250215
Achondrogenesis Type 1A
Polyhydramnios, Long philtrum, Short thorax, Hydrops fetalis, Thickened nuchal skin fold, Short n... ORPHA:93299
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Pes planus, Abnormality of the carpal bones, Abnormality of the ribs, Abnormali... ORPHA:93351
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Broad nasal tip, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:239800
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Congenital Laryngomalacia
Laryngomalacia, Non-midline cleft lip, Cleft palate ORPHA:2373
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... ORPHA:331206
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Wormian bones, Hydrops fetalis, Decreased fibular diameter, Multiple prenatal fra... OMIM:616897
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Bulging epiphyses, Metaphyseal irregularity, Bulging of the costochondral junc... OMIM:264700
Tarp Syndrome
Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Prominent antihelix, Deep palma... OMIM:311900
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Talipes equinovarus, Cryptorchidism, Scapulohumeral synostosis, Narrow mo... OMIM:602471
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Marshall-Smith Syndrome
Accelerated skeletal maturation, Scoliosis, Prominence of the premaxilla, Choanal stenosis, Overf... OMIM:602535
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Bulging epiphyses, Carious teeth, Metaphyseal irregularity, Bulging of the cos... OMIM:277440
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, Sensorin... OMIM:305620
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Phocomelia, High palate, Micrognathia, Depre... OMIM:266910
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Neonatal short-limb short stature, Wide anterior f... OMIM:259420
Thanatophoric Dysplasia, Type I
Polyhydramnios, Lethal short-limbed short stature, Metaphyseal irregularity, Narrow chest, Hypopl... OMIM:187600
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... OMIM:164900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatu... ORPHA:3268
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Greenberg Dysplasia
Polyhydramnios, Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Narrow che... OMIM:215140
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, ... ORPHA:958
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Feeding difficulties, Recurrent otitis media, Constipation, Thick upp... OMIM:617616
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Bulbous nose, Cleft palate OMIM:260150
Facial Clefting, Oblique, 1
Facial cleft, Cleft upper lip, Cleft palate OMIM:600251
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Perching Syndrome
Dysphagia, High palate, Respiratory distress, Feeding difficulties OMIM:617055
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Platyspondyly, Multicentric femoral head ossification, Prominent sternum,... OMIM:607326
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Cryptorchidism, Narrow mout... ORPHA:96334
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Convex nasal ridge, Pulmonary insufficiency, Broad long bones, Bead... OMIM:166210
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positiv... ORPHA:276
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Narrow chest, Respiratory insufficiency, Small abn... ORPHA:140
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Cryptorchidism, Tarsal synostosis, Broad thu... ORPHA:1106
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Auriculocondylar Syndrome 3
Laryngeal cleft, Bilateral conductive hearing impairment, Question mark ear, Stenosis of the exte... OMIM:615706
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
Boomerang Dysplasia
Polyhydramnios, Cryptorchidism, Abnormality of tibia morphology, Abnormality of femur morphology,... ORPHA:1263
Immunodeficiency 19
Lymphopenia OMIM:615617
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Broad nasal tip, Cleft lip, Cleft palate OMIM:300263
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Bilateral cleft lip and pa... ORPHA:1104
Cataract 35
Cataract OMIM:609376
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Narrow chest, Hypoplastic ilia, Umbilical hernia, Sh... OMIM:600972
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 36
Cataract OMIM:613887
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Orofacial Cleft 13
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening OMIM:613857
Cleft Lip/Palate
Poor suck, Agenesis of lateral incisor, Abnormal number of permanent teeth, Malnutrition, Feeding... ORPHA:199306
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Narrow chest, Flared iliac wing, Death i... OMIM:184260
Shox-Related Short Stature
Scoliosis, Cubitus valgus, Genu valgum, Ulnar radial head dislocation, Madelung deformity, Tibial... ORPHA:314795
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Cryptorchidism, Hydrops fetalis, Narrow mouth, Narrow chest, Respiratory ins... ORPHA:1865
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Polyhydramnios, Abnormality of long bone morphology, Narrow chest, Pol... ORPHA:1505
Osteoglophonic Dysplasia
Cryptorchidism, Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathi... OMIM:166250
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Flared iliac wing, Elbow d... ORPHA:90652
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Thanatophoric Dysplasia, Type Ii
Polyhydramnios, Platyspondyly, Lethal short-limbed short stature, Metaphyseal irregularity, Narro... OMIM:187601
Crane-Heise Syndrome
Cryptorchidism, Toe syndactyly, Finger syndactyly, Low-set, posteriorly rotated ears, Hypoplastic... ORPHA:1512
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Narrow chest, Natal tooth, Hamartoma of tongue, Intestinal malrotation, Anencepha... OMIM:269860
Kyphomelic Dysplasia
Dumbbell-shaped humerus, Flat acetabular roof, Undulate ribs, Ulnar bowing, Femoral bowing, Micro... OMIM:211350
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Hydrocephalus With Associated Malformations
Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Pulmonary hypoplasia, Short lower ... OMIM:236640
Otofacioosseous-Gonadal Syndrome
Short hallux, Genu valgum, Wormian bones, Cryptorchidism, Narrow chest, Underdeveloped nasal alae... OMIM:601976
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Anemia, Phocomeli... OMIM:274000
Phocomelia, Schinzel Type
Cryptorchidism, Abnormality of tibia morphology, Hydrops fetalis, High, narrow palate, Micrognath... ORPHA:2879
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Cleidocranial Dysplasia
Enamel hypoplasia, Wormian bones, Scoliosis, Narrow palate, Narrow chest, Persistent open anterio... OMIM:119600
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger... OMIM:614091
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Talipes equinovarus, Arthrogryposis multiplex congenita, Crypt... OMIM:611890
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Fibrochondrogenesis
Narrow mouth, Narrow chest, Respiratory insufficiency, Abnormality of the ribs, Abnormality of th... ORPHA:2021
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Premature birth, Respiratory failure, Intrauterine grow... OMIM:301021
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent peripheral lymph nodes in presence of infection, Abse... OMIM:600802
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Tarp Syndrome
Scoliosis, Small earlobe, Abnormality of the antihelix, Cryptorchidism, Tongue nodules, Postaxial... ORPHA:2886
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... OMIM:271640
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Frontonasal Dysplasia 3
Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Wide nasal bridge, Cleft palate, Fa... OMIM:613456
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Underdeveloped nasal alae, Conductive hearin... OMIM:608572
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... OMIM:271650
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... OMIM:602111
Cartilage-Hair Hypoplasia
Accelerated skeletal maturation, Scoliosis, Heart block, Narrow chest, Spinal dysraphism, Neutrop... ORPHA:175
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Hearing impairment, Protruding ear, Cleft palate, Prominent nasal bridge ORPHA:85273
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Narrow mouth, Anteverted nares, Abnormal palate morphology, Wide na... ORPHA:2412
Oculomaxillofacial Dysostosis
Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the dentition, Wide nasal brid... ORPHA:1794
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Broad thumb, Narrow mouth, Dental crowding, Postnatal growth retardation, Increas... ORPHA:251028
Momo Syndrome
Wide nasal base, Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Taurodonti... ORPHA:2563
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, K... OMIM:618291
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Respirat... OMIM:156530
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Achondrogenesis
Polyhydramnios, Long philtrum, Short thorax, Hydrops fetalis, Thickened nuchal skin fold, Short n... ORPHA:932
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Bifid distal phalanx of toe, Cryptorchidism, Scoliosis, Broad thumb, Dental c... OMIM:268310
Achondrogenesis, Type Ia
Polyhydramnios, Hydrops fetalis, Hypoplastic ischia, Short clavicles, Barrel-shaped chest, Depres... OMIM:200600
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Hearing impairment, Truncal obesity, Type... ORPHA:181393
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Premature graying of hair, Mandibular prognathia, Agan... OMIM:148820
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Elbow dislocation, Overfolded helix, Respiratory insufficiency, Abnorm... ORPHA:628
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Dental crowding, Choanal st... OMIM:600920
Meckel Syndrome, Type 8
Short nose, Low-set ears, Cleft palate, Cleft upper lip, Depressed nasal ridge, Abdominal distention OMIM:613885
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Pseudoepiphyses, Decreased testicular size, Long phil... OMIM:157800
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Shield chest, Elbow disloc... OMIM:143095
Arthrogryposis, Distal, Type 1C
Pursed lips, Cryptorchidism, Thin vermilion border, Scoliosis, Narrow mouth, Increased nuchal tra... OMIM:619110
Marshall Syndrome
Wide tufts of distal phalanges, Sensorineural hearing impairment, Irregular distal femoral epiphy... OMIM:154780
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Type II diabetes mellitus, Decrea... OMIM:615703
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Bulbous nose, Tongue nodules, Pectus excavatum, Short sternum, Kyphos... OMIM:258850
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, P... ORPHA:66628
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Bilateral sensorineural h... OMIM:605282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Bone pain, Postnatal growth retardation, Rachitic rosary, Increased susceptibi... ORPHA:289157
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Respiratory insuffici... OMIM:256050
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Madelung de... OMIM:249700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Hydrops fetalis, Maternal diabetes, Respiratory distress, Arrhythmia, ... ORPHA:45452
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:600081
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Choanal atresia, Low-set ears, Posteriorly rotated ears, Cleft upper lip, Cleft palate, High, nar... OMIM:607597
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Pes planus, Agenesis of maxillary cen... OMIM:311450
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Cleft palate, Micrognath... ORPHA:2015
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71526
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Abnormality of the pharynx, Cleft palate ORPHA:718
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Multiple Osteochondromas
Scoliosis, Abnormality of tibia morphology, Elbow dislocation, Bone pain, Abnormality of the meta... ORPHA:321
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Metaphyseal irregularity, Vacuolated lymphocytes, Abnormal thorax morphology, Co... OMIM:269920
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, P... ORPHA:179494
X-Linked Intellectual Disability, Siderius Type
Oral cleft, Cleft upper lip, Broad nasal tip ORPHA:85287
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Severe short stature, Delayed eruption of permanent tee... OMIM:112350
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Accelerated skeletal maturation, Scoliosis, Carious teeth, Pes planus, Small epiphyses, Short fem... OMIM:618363
Muenke Syndrome
Broad thumb, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of finger, ... OMIM:602849
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bod... OMIM:265000
Cornelia De Lange Syndrome 1
Cryptorchidism, Downturned corners of mouth, Choanal atresia, Pneumonia, Sensorineural hearing im... OMIM:122470
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin ... OMIM:606721
Ruvalcaba Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Narrow mouth, Narrow chest, Dental crowding, Ab... ORPHA:3121
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormality of the antihelix, Cranios... ORPHA:95699
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia... OMIM:249710
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Ulbright-Hodes Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Bilateral external ear deformity, Postnatal ... ORPHA:3404
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Fetal Parvovirus Syndrome
Hydrops fetalis, Increased nuchal translucency, Ascites, Intrauterine growth retardation, Hypertr... ORPHA:295
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Abnormal circulating lipid concentration, Abdominal obesity, E... OMIM:615980
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short thorax, Short metatarsal, Short phalanx of finger, Narrow chest, Respiratory... OMIM:617102
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Severe short-limb dwarfism, Elbow dislocation, Abnormall... OMIM:201250
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Polyhydramnios, Hydrops fetalis, Narrow chest, Natal tooth, Incr... ORPHA:50945
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Agenesis of maxillary central incis... ORPHA:2804
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:276575
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Insulin-... ORPHA:79085
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxit... OMIM:170390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal palate morphology, Mesomelia, Tooth agenesis, Long thorax, Abnormal ... ORPHA:1277
Developmental And Epileptic Encephalopathy 96
Neonatal respiratory distress, Hydrops fetalis, Death in infancy OMIM:619340
Temple Syndrome
Scoliosis, Joint hypermobility, Cryptorchidism, Premature birth, Decreased testicular size, High ... OMIM:616222
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Dyspnea, Respiratory dist... ORPHA:1832
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immuni... ORPHA:277
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Superiorly displaced ears, Swan neck-like deformities of the fingers, Abnorm... ORPHA:329252
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Hypoplastic distal segments of scapulae, Pierre-Robin sequence, Pectus excav... OMIM:602196
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly, Reduced ... OMIM:616050
Disorganization, Mouse, Homolog Of
Sensorineural hearing impairment, Cleft upper lip, Cleft palate OMIM:223200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Joint laxity, Pes planus, Short femoral neck, High palate, Flat capital ... OMIM:612350
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Morquio Syndrome C
Corneal opacity OMIM:252300
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Turnpenny-Fry Syndrome
Polyhydramnios, Narrow mouth, Narrow chest, Dental crowding, Mandibular prognathia, High palate, ... OMIM:618371
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Chromosome 16P13.3 Duplication Syndrome
Short phalanx of finger, Bulbous nose, Short nose, Camptodactyly, Pectus excavatum, Malar flatten... OMIM:613458
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyp... OMIM:608600
Melnick-Needles Syndrome
Narrow chest, Pes planus, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hyp... OMIM:309350
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk ... ORPHA:2839
Acrorenal-Mandibular Syndrome
Narrow palate, Narrow chest, Split hand, Hemivertebrae, High palate, Micrognathia, Elbow flexion ... OMIM:200980
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Anteverted nares, Pectus carinatum, Short finger, Kyphosis, Scler... OMIM:313420
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Kbg Syndrome
Long philtrum, Oligodontia, Cryptorchidism, Underdeveloped nasal alae, Macrotia, Anteverted nares... OMIM:148050
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Abnormal vocal cord morphology, Arrhythmia, Synostosis of carpal bones, Low-set, poste... ORPHA:3191
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal ... ORPHA:163966
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Convex ... OMIM:156510
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Grant Syndrome
Wormian bones, Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate OMIM:615731
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebr... OMIM:252500
Aarskog-Scott Syndrome
Cryptorchidism, Pes planus, Oral cleft, Broad foot, Hypoplasia of the maxilla, Long philtrum, Gen... ORPHA:915
Schneckenbecken Dysplasia
Accelerated skeletal maturation, Cryptorchidism, Polyhydramnios, Narrow chest, Increased fibular ... ORPHA:3144
Cerebrooculonasal Syndrome
Long philtrum, Macrotia, Low-set, posteriorly rotated ears, Abnormality of the nares, Solitary me... ORPHA:66625
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Atelosteogenesis Type Ii
Polyhydramnios, Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Campt... ORPHA:56304
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Oligohydramnios, Recurrent fractures, Talipes equinovalgus, Limb undergrowth,... ORPHA:453510
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Arthrogryposis, Distal, Type 1A
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Congenital hip dislocation, Narrow... OMIM:108120
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Talipes equinovarus, Hydrops fetalis, Narrow palate, Broad ri... OMIM:617022
Fryns Microphthalmia Syndrome
Facial cleft, Bilateral cleft lip and palate, Abnormality of the ear, Macrotia OMIM:600776
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Increased adipose tissu... ORPHA:435660
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy OMIM:613877
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Tarsal synostosis, Pes planus, C2-C3 subluxation, Sensorineural hea... OMIM:272460
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Gonadal Dysgenesis, Xy Type, With Associated Anomalies
Oral cleft, Short columella, Cleft upper lip OMIM:233430
Arthrogryposis, Distal, Type 3
Cryptorchidism, Arthrogryposis multiplex congenita, Congenital hip dislocation, Short phalanx of ... OMIM:114300
Multiple Symmetric Lipomatosis
Gait disturbance, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Pfeiffer Syndrome
Hip dysplasia, Hyperlordosis, Short philtrum, Broad thumb, Open mouth, Synostosis of carpal bones... ORPHA:710
Ellis-Van Creveld Syndrome
Cryptorchidism, Narrow chest, Natal tooth, Horizontal ribs, Cone-shaped epiphyses of phalanges 2 ... OMIM:225500
Puerto Rican Infant Hypotonia Syndrome
Long philtrum, Narrow palate, Drooling, Open mouth, Constipation, Chronic constipation, High pala... OMIM:600096
Pde4D Haploinsufficiency Syndrome
Accelerated skeletal maturation, Cryptorchidism, Abnormal dental enamel morphology, Short metatar... ORPHA:439822
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Long foot, Short sternum, Smooth philtrum,... OMIM:157980
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication... OMIM:616331
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Choana... OMIM:146510
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Dysphagia, Respiratory insufficiency, Respi... OMIM:614399
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:241530
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Chylous Ascites
Neoplasm, Lymphedema, Ascites ORPHA:1160
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Elbow dislocation, Split hand, Shoulder dislocation, Absent radius, Stenosis of the external audi... OMIM:171480
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Sternum, Premature Obliteration Of Sutures Of
Micrognathia, Cryptorchidism, Short sternum, Premature sternal synostosis OMIM:184800
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Roberts Syndrome
Polyhydramnios, Cryptorchidism, Craniosynostosis, Underdeveloped nasal alae, Bilateral single tra... ORPHA:3103
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Abnormal sternum morphology, Oral ... ORPHA:2990
Achondroplasia
Limited elbow extension, Limited hip extension, Generalized joint laxity, Trident hand, Rhizomeli... OMIM:100800
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Cryptorchidism, Respiratory insufficiency, Spina bifida occulta, Abnormality of the ri... ORPHA:2311
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Bone pain, Tibi... OMIM:307800
Triopia
Midline facial cleft, Laryngomalacia, Median cleft lip, Cleft palate ORPHA:3374
Diprosopus
External ear malformation, Abnormality of the nose, Non-midline cleft lip, Cleft palate ORPHA:1681
Martsolf Syndrome 1
Cryptorchidism, Short phalanx of finger, Joint laxity, Slender ulna, Metatarsus adductus, Cardiac... OMIM:212720
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Coronal craniosynostosis, Sensorineural hea... ORPHA:53271
Tarsal-Carpal Coalition Syndrome
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... OMIM:186570
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Conductive hearing impairment, Wide nasal bridge, Stenosis of the exte... ORPHA:1513
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Geroderma Osteodysplasticum
Wormian bones, Camptodactyly, Mandibular prognathia, Increased susceptibility to fractures, Femor... OMIM:231070
Trisomy 1Q
Polyhydramnios, Camptodactyly of finger, Short thorax, Preaxial hand polydactyly, Toe syndactyly,... ORPHA:261344
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Epiphyseal stippling, Congenital hip dislocation, Erythema, Short clavicles, Micrognat... OMIM:308050
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Synostosis of carpal ... ORPHA:1005
Galactosialidosis
Corneal opacity ORPHA:351
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Camptodactyly of finger, Hyperlordosis, Narrow palate, Narrow mouth, Synostosis of car... ORPHA:1323
Charlie M Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Macrotia, Non-midline cleft lip, Tooth agene... ORPHA:1406
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Anterior scallopin... OMIM:611717
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Genu valgum, Hypoplasia of the maxilla, Slender long bones with narrow diaphyses,... OMIM:608154
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Polyhydramnios, Macroglossia, Respiratory distress, Narrow chest... ORPHA:1423
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair, Ataxia OMIM:212835
Trisomy 13
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Hydrops fetalis, Narrow chest, Bilateral... ORPHA:3378
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal thorax morphol... ORPHA:294975
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Narrow chest, Pectus carinatum, Pectus excavatum, Mandibular prognathia, Kyphosis, Lon... OMIM:300676
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Bell-shaped thorax,... OMIM:611702
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Maxillonasal Dysplasia
Open bite, Short nose, Depressed nasal ridge, Mandibular prognathia, Short columella, Abnormality... ORPHA:1248
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Acromicric Dysplasia
Long philtrum, Narrow mouth, Short phalanx of finger, Bulbous nose, Deep philtrum, Ovoid vertebra... OMIM:102370
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Acitretin/Etretinate Embryopathy
Bilateral sensorineural hearing impairment, Maternal teratogenic exposure, Abnormality of the cal... ORPHA:40366
Trichorhinophalangeal Syndrome, Type Iii
Scoliosis, Pear-shaped nose, Short metatarsal, Short phalanx of finger, Accelerated bone age afte... OMIM:190351
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Disproportionate short stature, Narrow... ORPHA:1801
Zechi-Ceide Syndrome
Oligodontia, Underdeveloped nasal alae, Wide nasal bridge, Stenosis of the external auditory cana... OMIM:612916
Wt Limb-Blood Syndrome
Cryptorchidism, Short phalanx of finger, Radioulnar synostosis, Micrognathia, Joint contracture o... OMIM:194350
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Broad nasal tip, Osteolytic defects of th... OMIM:259610
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Intellectual Disability, Wolff Type
Bulbous nose, Macrotia, Microretrognathia, Non-midline cleft lip, Wide nasal bridge, Oral cleft, ... ORPHA:3080
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla, Drooling OMIM:618383
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Sensorineural hearing impairment, Elevated... OMIM:610717
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Micrognathia, Short di... OMIM:311895
Neu-Laxova Syndrome 2
Abnormality of the pinna, Low-set ears, Cleft palate, High palate, Micrognathia, Depressed nasal ... OMIM:616038
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Cryptorchidism, Thickened nuchal skin fold, Lambdoidal craniosy... OMIM:312830
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short phalanx of finger, Bulbous nose, Sensorineural hearing impairment, Micrognathia, Coronal cl... OMIM:215150
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Acrofacial Dysostosis, Weyers Type
Abnormality of the antihelix, Abnormality of the dentition, Hypodontia, Solitary median maxillary... ORPHA:952
Microphthalmia, Isolated, With Coloboma 4
Microcornea OMIM:251505
Mulibrey Nanism
Enamel hypoplasia, Hydrops fetalis, Dental crowding, Hypoplastic frontal sinuses, Growth delay, H... OMIM:253250
Baller-Gerold Syndrome
Scoliosis, Narrow mouth, Lambdoidal craniosynostosis, Underdeveloped nasal alae, Choanal stenosis... OMIM:218600
Immunodeficiency 47
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... OMIM:300972
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Cryptorchidism, Craniosynostosis, Wide nasal base, Abnormal for... ORPHA:3134
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flatt... ORPHA:93356
Apert Syndrome
Narrow palate, Broad thumb, Ovarian neoplasm, Mandibular prognathia, Choanal atresia, Respiratory... ORPHA:87
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, Conductive... ORPHA:3238
Autosomal Recessive Robinow Syndrome
Open bite, Cryptorchidism, Scoliosis, Broad thumb, Downturned corners of mouth, Elbow dislocation... ORPHA:1507
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Abnormality of the philtrum, Overfolded helix, Aplasia/Hypoplasia of the tongue, ... ORPHA:2759
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Congenital Disorder Of Glycosylation, Type Ik
Hypertelorism, Abnormality of the amniotic fluid, Death in infancy, Nonimmune hydrops fetalis, In... OMIM:608540
Hypochondroplasia
Limited elbow extension, Childhood onset short-limb short stature, Aplasia/hypoplasia of the extr... OMIM:146000
Auriculocondylar Syndrome 2
Apnea, Narrow mouth, Dental crowding, Micrognathia, Overfolding of the superior helices, Mandibul... OMIM:614669
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate, Micrognathia ORPHA:2016
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Dental crowding, Joint laxity, Narrow... OMIM:615777
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Choanal stenosis, Postnatal growth retardation, S... OMIM:269150
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Narrow chest, Mandibular prognathia, Short ... ORPHA:1327
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... OMIM:300853
Grant Syndrome
Open bite, Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility,... ORPHA:2097
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death OMIM:273680
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Sh... OMIM:609813
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Broad long bones, Hypoplastic iliac wing, Absent ver... OMIM:200610
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Phenobarbital Embryopathy
Mandibular prognathia, Unilateral cleft lip, Low-set ears, Abnormal nasal base, Malar flattening ORPHA:1919
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Short phalanx of finger, Joint laxity, Recurrent mand... OMIM:225410
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Joint stiffness,... ORPHA:1275
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Narrow palate, Short phalanx of finger, Atresia of the external auditory canal, Sandal gap, High ... OMIM:264475
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Hyperuricemia, Insulin-resistant diabetes mel... OMIM:604367
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Sparse axillary hair, Primary amenorrhea, Sparse pubic hair, Hypogon... OMIM:146110
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Cryptorchidism, Short metatarsal, Short phalanx of finger, Na... OMIM:180870
Mmep Syndrome
Oral cleft, Mandibular prognathia, Median cleft lip ORPHA:3434
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Polyhydramnios, Hydrops fetalis, Abnormal cortical bone morp... ORPHA:2204
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Mild short stature, Generalized joint laxity, Hip osteoarth... OMIM:132400
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Cryptorchidism, Narrow palate, Split hand, Hemivertebrae, Phocomelia, High ... OMIM:276820
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Joint laxity, Long upper lip, Pectus excavatum, Carpal synostosis, Kyphoscoliosis,... OMIM:615349
Hypoglossia With Situs Inversus