hypomyelinating leukodystrophy 5
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019046
leukodystrophy
is_a
FAM126A leukodystrophy
exact
HLD5
exact
hypomyelinating leukodystrophy type 5
exact
hypomyelination - congenital cataract
related
hypomyelination and congenital cataract
related
hypomyelination-congenital cataract syndrome
exact
leukodystrophy caused by mutation in FAM126A
exact
leukodystrophy, hypomyelinating, 5
related
leukodystrophy, hypomyelinating, type 5
exact