has material basis in germline mutation in SOX10 autosomal dominant disease syndromic disease eye disorder PCWH syndrome https://github.com/monarch-initiative/mondo/issues/5682 https://www.malacards.org/card/peripheral_demyelinating_neuropathy_central_dysmyelination_waardenburg_syndrome_and_hirschsprung_disease OMIM:609136 A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. MESH:C563789 Waardenburg-Shah syndrome, neurologic variant PCWH UMLS:C1836727 NANDO:1200586 Orphanet:163746 DOID:0090111 GARD:0017004 MEDGEN:373160 WS4 plus neurologic Waardenburg-Shah syndrome peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease NANDO:2201298 MONDO:0012198 leukodystrophy hypopigmentation of the skin hereditary peripheral neuropathy intestinal motility disease