| Metadata | |
|---|---|
| ID | 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HLD2 [EXACT] Pelizaeus-Merzbacher-like disease 1 [EXACT] Pelizaeus-Merzbacher-like disease due to GJC2 mutation [EXACT] PMLD1 [EXACT] |
| Parent Relationships |