hypomyelinating leukodystrophy 10
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
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
SPAPYUG7.05