hypomyelinating leukodystrophy 12
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
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
SPAC16A10.03c SPAC823.12