Term Name:	hypomyelinating leukodystrophy 5
Synonyms:	HLD5, hypomyelination-congenital cataract syndrome
Definition:	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.
Ontology:	Human Disease [DOID:0060793]   ( DOID:0060793 )