Catalog

Pelizaeus-Merzbacher-like due to SLC16A2 mutation

No MMS code

Link to WHO Definition

Pelizaeus-Merzbacher-like due to SLC16A2 mutation – http://id.who.int/icd/entity/1381085790

Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; ). This type is due to a mutation in the SLC16A2 gene.