OBO ID: DOID:0090111
Term Name: PCWH syndrome Search Ontology:
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
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)
References:
Ontology: Human Disease   (DOID:0090111)
OTHER PCWH syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SOX10 PCWH syndrome 609136
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None