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

• ICD10CM:E75.2
• OMIM:609136
• ORDO:163746

Ontology

Human Disease   ( DOID:0090111 )