Rare syndrome with the association of the features of Waardenburg Shah and neurological features namely neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. Autonomic dysfunction (re
syndroom van perifere demyeliniserende neuropathie, centrale dysmyeliniserende leukodystrofie, syndroom van Waardenburg en ziekte van Hirschsprung