Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
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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
combined oxidative phosphorylation defect type 7
MONDO:0013306