DISEASES

Disease-gene associations mined from literature

Human genes for PCWH syndrome

PCWH syndrome [DOID:0090111]

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.

Synonyms:  PCWH syndrome,  DOID:0090111,  PCWH disease,  PCWH disorder,  PCWH syndromes ...