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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: -
Detailed information
Professionals
- Anesthesia guidelines
- Czech (2015)
- English (2015)
- Deutsch (2018)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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