Hypomyelinating leukodystrophy 2

Definition

Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.

Also known as GJC2 leukodystrophy, HLD2, hypomyelinating leukodystrophy type 2, leukodystrophy caused by mutation in GJC2, leukodystrophy, hypomyelinating, type 2, Pelizaeus-Merzbacher-like disease due to GJC2 mutation, PMLD1 — per MONDO

Also identified as

• DOID 0060787 per MONDO
• MESH C563855 per MONDO
• OMIM 608804 per MONDO
• Orphanet 280282 per MONDO
• UMLS C1837355 per MONDO