Human genes for hypomyelinating leukodystrophy 5
Hypomyelinating leukodystrophy 5 [DOID:0060793]
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.
Synonyms: hypomyelinating leukodystrophy 5, DOID:0060793, HLD5, hypomyelination-congenital cataract syndrome, hypomyelinationcongenital cataract syndrome ...