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
Ontology
Human Disease   ( DOID:0060787 )
Relationships
is a type of
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Genes Involved
Zebrafish Models