Term Name:	hypomyelinating leukodystrophy 2
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.
Ontology:	Human Disease [DOID:0060787]   ( DOID:0060787 )