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.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0019046
leukodystrophy
excluded_subClassOf
MONDO:0019290
hypopigmentation of the skin
excluded_subClassOf
MONDO:0020127
hereditary peripheral neuropathy
excluded_subClassOf
MONDO:0021189
intestinal motility disease
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002254
syndromic disease
is_a
PCWH
exact
WS4 plus
exact
neurologic Waardenburg-Shah syndrome
exact
peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
exact