GOT2

glutamic-oxaloacetic transaminase 2
OMIM: 138150
PanelMode of inheritanceDetails
1 panel
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Increased serum lactate, Hyperammonemia, Microcephaly, Failure to thrive, Feeding difficulties, Abnormality of nervous system morphology