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Mitochondrial DNA-associated Leigh syndrome

Disease definition

Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.

ORPHA:255210

Classification level: Disorder
  • Synonym(s):
    • MILS
    • Maternally-inherited Leigh disease
    • Maternally-inherited infantile subacute necrotizing encephalopathy
    • mtDNA-associated Leigh syndrome
  • Prevalence: -
  • Inheritance: Mitochondrial inheritance 
  • Age of onset: Childhood, Infancy
  • ICD-10: E88.8
  • OMIM: 256000
  • UMLS: C2931092
  • MeSH: -
  • GARD: 3671
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.