OBO ID: DOID:0090126 |
Term Name: | branched-chain keto acid dehydrogenase kinase deficiency | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0090126 ) |
OTHER branched-chain keto acid dehydrogenase kinase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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