Pelizaeus-Merzbacher-like due to GJC2 mutation (Q93664): Difference between revisions

From determinar.ia.br - Determine suas informações
‎Changed label, description and/or aliases in pt-br, en
‎Changed an Item
Property / Canonical URI
 
Property / Canonical URI: https://id.who.int/icd/entity/1983099839 / rank
 
Normal rank

Revision as of 08:45, 16 August 2026

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 GJC2 gene.
Language Label Description Also known as
default for all languages
ID_1983099839
    English
    Pelizaeus-Merzbacher-like due to GJC2 mutation
    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 GJC2 gene.

      Statements