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Metadata
ID	DOID:0060797
Name	hypomyelinating leukodystrophy 8
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. https://www.ncbi.nlm.nih.gov/pubmed/22036171, https://www.ncbi.nlm.nih.gov/pubmed/22036172
Xrefs	ICD10CM:G11.1 OMIM:614381
Synonyms	HLD8 [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease