hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.
MONDO:0019703
obsolete primary bone dysplasia with increased bone density (obsolete MONDO:0019703)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0005039
reproductive system disorder
is_a
MONDO:0005151
endocrine system disorder
is_a
MONDO:0020022
central nervous system malformation
is_a
MONDO:0700277
POLR3B-related disorder
is_a
MONDO:0700282
POLR3-related leukodystrophy
is_a
HLD8
exact
POLR3B leukodystrophy
exact
endosteal sclerosis-cerebellar hypoplasia syndrome
exact
leukodystrophy caused by mutation in POLR3B
exact
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
related
SPAC4G9.08c