Mitochondrial complex IV deficiency, nuclear type 20
MONDO:0033655Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX5A gene.
Also known as: MC4DN20, mitochondrial complex IV deficiency, nuclear type 20
40 clinical trials for this condition and its sub-types.
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Disease
(618)
Metabolic disease
(215)
Hereditary disease
(172)
Inborn mitochondrial metabolism disorder
(57)
Inborn errors of metabolism
(42)
Mitochondrial disease
(39)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Mitochondrial respiratory chain complex deficiency
(4)
Mitochondrial oxidative phosphorylation disorder
(3)