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DOID:0090126 - branched-chain keto acid dehydrogenase kinase deficiency
Disease Ontology Definition:An autosomal recessive disease characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the BCKDK gene on chromosome 16p11.
Synonyms: BCKDK deficiency, BCKDKD, autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,
Echinobase Genes : bckdk
MIM:614923 - branched-chain ketoacid dehydrogenase kinase deficiency; bckdkd |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)