Search Ontology:
Human Disease
hypomyelinating leukodystrophy 2
- Term ID
- DOID:0060787
- Synonyms
-
- HLD2
- Pelizaeus-Merzbacher-like disease 1
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation
- PMLD1
- 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. (2)
- References
-
- ICD10CM:E75.2
- MIM:608804
- ORDO:280282
- Ontology
- Human Disease ( DOID:0060787 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models