Summary Literature (0)

DOID:0090111 - PCWH syndrome

Disease Ontology Definition:An autosomal dominant disease 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 that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13.

Synonyms: Neurologic Waardenburg-Shah syndrome, PCWH, Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease, Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome,

Echinobase Genes :


OMIM:

MIM:609136 - peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease; pcwh

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee