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Disease Ontology Browser
branched-chain keto acid dehydrogenase kinase deficiency (DOID:0090126)
Alliance: disease page
Synonyms: autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency; BCKDK deficiency; BCKDKD
Alt IDs: OMIM:614923, ICD10CM:E71.1, ORDO:308410
Definition: An autosomal recessive disease that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory