hypomyelinating leukodystrophy 10
Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0019046
leukodystrophy
is_a
HLD10
exact
PYCR2 leukodystrophy
exact
PYCR2-related microcephaly-progressive leukoencephalopathy
exact
hypomyelinating leukodystrophy type 10
exact
leukodystrophy caused by mutation in PYCR2
exact
leukodystrophy, hypomyelinating, 10
exact
leukodystrophy, hypomyelinating, type 10
exact
SPAPYUG7.05