Orphanet: Combined oxidative phosphorylation defect type 15
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Combined oxidative phosphorylation defect type 15

Disease definition

Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

ORPHA:319524

Classification level: Disorder
  • Synonym(s):
    • COXPD15
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Childhood
  • ICD-10: E88.8
  • OMIM: 614947
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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