" /> Combined oxidative phosphorylation deficiency 2 - CISMeF





Preferred Label : Combined oxidative phosphorylation deficiency 2;

Symbol : COXPD2;

CISMeF acronym : COXPD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial ribosomal protein S16 (MRPS16, 609204.0001);

Laboratory abnormalities : Increased serum lactate; Abnormal liver function tests; Decreased activity of mitochondrial respiratory complexes I, II III, IV, and V; Normal complex II activity;

Prefixed ID : #610498;

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29/07/2025


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