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Combined oxidative phosphorylation defect type 29
Disease definition
A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.
ORPHA:478029
Classification level: Disorder- Synonym(s):
- COXPD29
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy
- ICD-10: E88.8
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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