Human genes for hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism [DOID:0060794]
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood 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.
Synonyms: hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism, DOID:0060794, hypomyelinating leukodystrophy 7 with or without oligodontia andor hypogonadotropic hypogonadism, ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy, dentoleukoencephalopathy ...