| Metadata | |
|---|---|
| ID | DOID:0090111 |
| Name | PCWH 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. https://ghr.nlm.nih.gov/gene/SOX10#conditions, https://www.omim.org/entry/609136 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Neurologic Waardenburg-Shah syndrome [EXACT] PCWH [EXACT] Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [EXACT] Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |