PCWH syndrome

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.

Also known as: PCWH, WS4 plus, neurologic Waardenburg-Shah syndrome, peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Waardenburg-Shah syndrome, neurologic variant, peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

0 clinical trials for this condition and its sub-types, 0 tagged with PCWH syndrome itself.