Term Name:	hypomyelinating leukodystrophy 8
Synonyms:	HLD8
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.
Ontology:	Human Disease [DOID:0060797]   ( DOID:0060797 )