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XB-GENEPAGE-965455
dbt dihydrolipoamide branched chain transacylase E2
Monarch Ortholog Phenotypes
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Human (25 sources): Abnormality of the pharynx, Abnormality of the voice, Ataxia, Cerebral edema, Coma, Elevated circulating branched chain amino acid concentration, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth abnormality, [+] |
Mouse (2 sources): decreased circulating glutamic acid level, postnatal lethality, complete penetrance |
View all ortholog results at Monarch |