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Human Disease

PCWH syndrome

Term ID
DOID:0090111
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models