severe X-linked mitochondrial encephalomyopathy
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.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD6
related
combined oxidative phosphorylation deficiency 6
related
combined oxidative phosphorylation deficiency 6, X-linked recessive
exact
combined oxidative phosphorylation deficiency type 6
exact
mitochondrial encephalomyopathy due to COXPD6
exact
mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
exact
SPAC26F1.14c