Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.
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severe X-linked mitochondrial encephalomyopathy
MONDO:0010437
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
MONDO:0012191
combined oxidative phosphorylation defect type 2
MONDO:0012510
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
MONDO:0012512
combined oxidative phosphorylation defect type 4
MONDO:0012534
hypotonia with lactic acidemia and hyperammonemia
MONDO:0012718