|OBO ID: DOID:0090126|
|Term Name:||branched-chain keto acid dehydrogenase kinase deficiency||Search Ontology:|
|Definition:||An amino acid metabolic disorder 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. (2)|
|Ontology:||Human Disease (DOID:0090126)|
|is a type of:||
OTHER branched-chain keto acid dehydrogenase kinase deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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