hypomyelinating leukodystrophy 8 (DOID:0060797)
Alliance: disease page
Synonyms: HLD8
Alt IDs: OMIM:614381, ICD10CM:G11.1
Definition: 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.