Mondo Description Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
Uniprot Description A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013970: branched-chain keto acid dehydrogenase kinase deficiency