Hypomyelinating leukodystrophy 5
Hypomyelinating leukodystrophy 5
Definition
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.
Also known as FAM126A leukodystrophy, HLD5, hypomyelinating leukodystrophy type 5, hypomyelination-congenital cataract syndrome, leukodystrophy caused by mutation in FAM126A, leukodystrophy, hypomyelinating, type 5 — per MONDO