Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
ORPHA:163746Microphthalmia with limb anomalies
ORPHA:1106Paraneoplastic neurologic syndrome
ORPHA:36388PRUNE1-related neurological syndrome
ORPHA:544469Waardenburg syndrome
ORPHA:3440Waardenburg syndrome type 1
ORPHA:894Waardenburg syndrome type 2
ORPHA:895Waardenburg syndrome type 3
ORPHA:896Waardenburg-Shah syndrome
ORPHA:897