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XB-GENEPAGE-1007471
bckdha branched chain keto acid dehydrogenase E1, alpha polypeptide
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
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Human (25 sources): Abnormality of the pharynx, Abnormality of the voice, Ataxia, Cerebral edema, Coma, Elevated plasma branched chain amino acids, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth abnormality, [+] |
Mouse (16 sources): abnormal brown adipose tissue physiology, abnormal embryo size, abnormal mean corpuscular volume, behavior/neurological phenotype, decreased core body temperature, decreased fatty acid oxidation, decreased mean corpuscular volume, decreased vertical activity, impaired adaptive thermogenesis, increased liver triglyceride level, [+] |
View all ortholog results at Monarch |