Mitochondrial DNA-associated Leigh syndrome

Orpha code: 255210OMIM code: 256000

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.

Disease data
Classification

Disease

Synonyms
MILS
Choroba Leigha dziedziczona od matki
Dziecięca podostra encefalopatia martwicza dziedziczona od matki
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
ORPHA code
255210
OMIM code
256000
ICD10 code
E88.8
ICD11 code
8C73.Y

No additional description.

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