Disease-gene associations mined from literature

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 ...