/hypomyelinating leukodystrophy 5

hypomyelinating leukodystrophy 5

Rare Disease

MONDO:0012514

Also Known As

FAM126A leukodystrophyHLD5hypomyelinating leukodystrophy type 5hypomyelination-congenital cataract syndromeleukodystrophy caused by mutation in FAM126Aleukodystrophy, hypomyelinating, type 5hypomyelination - congenital cataracthypomyelination and congenital cataracthypomyelination and congenital cataract: HCCleukodystrophy, hypomyelinating, 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.