OBO ID: DOID:0060787
Term Name: hypomyelinating leukodystrophy 2 Search Ontology:
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:
Ontology: Human Disease   (DOID:0060787)
OTHER hypomyelinating leukodystrophy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GJC2 Leukodystrophy, hypomyelinating, 2 608804
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None