Disease: Cranioectodermal Dysplasia 2

Name Cranioectodermal Dysplasia 2

Synonyms -

Classification bone, developmental, eye, genetic, renal, respiratory, skin

Phenotypes Abnormality of the pinna; Acidosis; Autosomal recessive inheritance; Bile duct proliferation; Biliary cirrhosis; Blepharophimosis; Brachydactyly; Broad philtrum; Cholangitis; Cholestasis; Cleft palate; Clinodactyly; Cloverleaf skull; Craniosynostosis; Cutis laxa; Cystic hygroma; Depressed nasal bridge; Dolichocephaly; Ectodermal dysplasia; Elevated hepatic transaminase; Epicanthus; Everted lower lip vermilion; Frontal bossing; Full cheeks; Global developmental delay; Hepatomegaly; High forehead; High palate; Horizontal ribs; Hydrops fetalis; Hyperbilirubinemia; Hypertelorism; Hypertension; Inguinal hernia; Joint laxity; Left ventricular hypertrophy; Low-set ears; Mesomelia; Metopic synostosis; Microdontia; Micrognathia; Midface retrusion; Narrow chest; Narrow forehead; Narrow palpebral fissure; Patent ductus arteriosus; Patent foramen ovale; Pectus excavatum; Plagiocephaly; Polyhydramnios; Polysplenia; Portal fibrosis; Postaxial hand polydactyly; Renal cyst; Renal insufficiency; Retrognathia; Rhizomelia; Short neck; Short ribs; Smooth philtrum; Sparse eyebrow; Sparse eyelashes; Sparse hair; Splenomegaly; Syndactyly; Telecanthus; Upslanted palpebral fissure; Wide nasal bridge; Widely spaced teeth

Associated Genes WDR35 (Withdrawn symbols: FAP118, IFT121, IFTA1, KIAA1336, MGC33196 )

Mouse Orthologs Wdr35 (Withdrawn symbols: 4930459M12Rik )

Source OMIM:613610 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter