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Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Disease definition
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.
ORPHA:168566
Classification level: Disorder- Synonym(s):
- Fatal mitochondrial disease due to COXPD3
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E88.8
- OMIM: 610505
- UMLS: C1864840
- MeSH: -
- GARD: -
- MedDRA: -
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