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XB-GENEPAGE-982533
dlat dihydrolipoamide S-acetyltransferase
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
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Human (18 sources): Ataxia, Choreoathetosis, Decreased activity of the pyruvate dehydrogenase complex, Delayed gross motor development, Drooling, Global developmental delay, Hyperreflexia, Intellectual disability, mild, Jerky head movements, Lactic acidosis, [+] |
Mouse (1 source): preweaning lethality, complete penetrance |
View all ortholog results at Monarch |