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Severe X-linked mitochondrial encephalomyopathy

Disease definition

Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

ORPHA:238329

Classification level: Disorder
  • Synonym(s):
    • Mitochondrial encephalomyopathy due to COXPD6
    • Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: G31.8
  • OMIM: 300816
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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