Human genes for hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism [DOID:0060797]
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.
Synonyms: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, DOID:0060797, hypomyelinating leukodystrophy 8 with or without oligodontia andor hypogonadotropic hypogonadism, HLD8