Gene: Zeb1 MGI:1344313

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

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.

Human diseases associated with Zeb1 (3 diseases)
Human diseases predicted to be associated with Zeb1 (4149 diseases)

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

Disease	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	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

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