/leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

Rare Disease

MONDO:0011897

Also Known As

4H syndromeHLD7ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophyhypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadismleukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismleukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadismleukoencephalopathy, hypomyelinating, with ataxia and delayed dentitionleukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

Definition

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.