hypomyelinating leukodystrophy 12
HLD12
exact
VPS11 leukodystrophy
exact
VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
exact
hypomyelinating leukodystrophy type 12
exact
leukodystrophy caused by mutation in VPS11
exact
leukodystrophy, hypomyelinating, 12
exact
leukodystrophy, hypomyelinating, type 12
exact
Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019046
leukodystrophy
is_a
MONDO:0100617
VPS11-related neurological disorder
is_a
SPAC823.12 SPAC16A10.03c