Pelizaeus-Merzbacher-like due to GJC2 mutation (Q93664): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / CURIE | |||
CID11:ID_1983099839 | |||
| Property / CURIE: CID11:ID_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
CID11:ID_1983099839
0 references
