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glutamate pyruvate transaminase 2 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT49 patients show a developmental encephalopathy characterized by rapid onset of failure to thrive and microcephaly, as well as profoundly delayed development.
Mondo Term and Equivalent IDs
MONDO:0014567:  glutamate pyruvate transaminase 2 deficiency
Orphanet:477673: