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Disease Ontology Browser
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism (DOID:0060797)
Synonyms: HLD8
Alt IDs: OMIM:614381, ICD10CM:G11.1, ORDO:88637
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory