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XB-GENEPAGE-994836
bckdk branched chain ketoacid dehydrogenase kinase
Monarch Ortholog Phenotypes
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Human (4 sources): Abnormal circulating branched chain amino acid concentration, Autism, Intellectual disability, Seizure |
Mouse (17 sources): abnormal amino acid level, abnormal carbon dioxide level, abnormal coat appearance, abnormal miniature inhibitory postsynaptic currents, abnormal social investigation, decreased body size, decreased brain weight, decreased locomotor activity, decreased muscle weight, decreased vertical activity, [+] |
View all ortholog results at Monarch |