leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
MONDO:0700276
POLR3A-related disorder
is_a
MONDO:0700282
POLR3-related leukodystrophy
is_a
4H syndrome
exact
HLD7
exact
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
exact
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
exact
leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism
exact
leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition
exact
SPBC651.08c