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
• OMIM:608804
• ORDO:280282

Ontology

Human Disease   ( DOID:0060787 )