Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterised by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.
Also indexed as
Null syndromePelizaeus-Merzbacher diseasePelizaeus-Merzbacher disease in female carriersPelizaeus-Merzbacher disease late onset formPelizaeus-Merzbacher disease, classic formPelizaeus-Merzbacher disease, connatal formPelizaeus-Merzbacher disease, transitional form