|OBO ID: DOID:0090111|
|Term Name:||PCWH syndrome||Search Ontology:|
|Definition:||A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. (2)|
|Ontology:||Human Disease (DOID:0090111)|
|is a type of:||
OTHER PCWH syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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