hypomyelinating leukodystrophy 5 (DOID:0060793)
Alliance: disease page
Synonyms: HLD5; hypomyelination-congenital cataract syndrome
Alt IDs: OMIM:610532, ICD10CM:G37.8, ORDO:85163
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.