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Mitochondrial DNA depletion syndrome, encephalomyopathic form

Disease definition

Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.

ORPHA:254803

Classification level: Group of disorders
  • Synonym(s):
    • mtDNA depletion syndrome, encephalomyopathic form
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 612073  612075
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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