Pelizaeus-Merzbacher-like disease

Pathology

• hypomyelinating leukodystrophy

Genetics

• autosomal recessive
• associated with defects in GJA12 (Cx47) gene

Clinical manifestations

• nystagmus
• impaired motor development
• ataxia
• choreoathetotic movements
• dysarthria
• progressive spasticity

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Additional terms

• Pelizaeus-Merzbacher disease

Database

• OMIM: https://mirror.omim.org/entry/608804