"with typical peripheral nervous system involvement"
"no typical peripheral nervous system involvement"
"others"
"SOX10 (peripheral neuropathy, central hypomyelination, Waardenburg syndrome, Hirschsprung's disease)"
"H-ABC (hypomyelination with atrophy of basal ganglia and cerebellum)"
"H-ABC (hypomyelination with atrophy of basal ganglia and cerebellum)"