Term ID: | 16814 |
Name: | maternally-inherited Leigh syndrome |
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. |
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Synonyms: | Leigh disease, maternally inherited; maternally inherited Leigh syndrome; maternally-inherited infantile subacute necrotizing encephalopathy; maternally-inherited Leigh disease; MILS; mitochondrial DNA-associated Leigh syndrome; Subacute necrotizing encephalomyelopathy maternally inherited |
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OMIM: MSeqDR : Genes: |
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