ZFIN Human Disease: PCWH syndrome

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:	ICD10CM:E75.2 OMIM:609136 ORDO:163746
Ontology:	Human Disease ( DOID:0090111 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SOX10	sox10	PCWH syndrome	609136

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None