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Maternally-inherited Leigh syndrome

Orpha number ORPHA255210
Synonym(s) MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
Prevalence -
Inheritance Mitochondrial inheritance
Age of onset Infancy
Neonatal
ICD-10
  • G31.8
ICD-O -
OMIM
UMLS
  • C2931092
MeSH -
MedDRA -
SNOMED CT -

Summary

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.


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Detailed information

Clinical genetics review
  • EN (2014)
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