" /> combined oxidative phosphorylation deficiency 3 - CISMeF





Preferred Label : combined oxidative phosphorylation deficiency 3;

Définition CISMeF : Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.;

UMLS semantic type : T047 - Disease or Syndrome;

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Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

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28/07/2025


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