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Maternally-inherited 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

  • Synonym(s):
    • MILS
    • Maternally-inherited Leigh disease
    • Maternally-inherited infantile subacute necrotizing encephalopathy
  • Prevalence: -
  • Inheritance: Mitochondrial inheritance 
  • Age of onset: Childhood, Infancy
  • ICD-10: G31.8
  • OMIM: 256000
  • UMLS: C2931092
  • MeSH: -
  • GARD: 3671
  • MedDRA: -

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