Visualize
Metadata
DOID DOID:0060787
Name hypomyelinating leukodystrophy 2
Definition A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.
https://www.ncbi.nlm.nih.gov/pubmed/15192806, https://www.ncbi.nlm.nih.gov/pubmed/18094336
Synonyms

HLD2 [EXACT]

Pelizaeus-Merzbacher-like disease 1 [EXACT]

Pelizaeus-Merzbacher-like disease due to GJC2 mutation [EXACT]

PMLD1 [EXACT]

Xrefs

ICD10CM:E75.2

OMIM:608804

ORDO:280282

Relationships

is_a hypomyelinating leukodystrophy

Add an item to the term tracker