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XB-GENEPAGE-5762326
pc.2 pyruvate carboxylase, gene 2
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
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Human (17 sources): Clonus, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hyperalaninemia, Hypoglycemia, Hypotonia, Increased circulating lactate concentration, Increased serum pyruvate, Intellectual disability, [+] |
Mouse (6 sources): abnormal cartilage development, abnormal craniofacial bone morphology, abnormal cranium morphology, absent upper incisors, disproportionate dwarf, short upper incisors |
View all ortholog results at Monarch |