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Combined oxidative phosphorylation defect type 17
Disease definition
Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.
ORPHA:369913
Classification level: Disorder- Synonym(s):
- COXPD17
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E88.8
- OMIM: 615440
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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