Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency (Q89281): Difference between revisions
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Revision as of 15:54, 15 August 2026
Saguenay-Lac-Saint-Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterised by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
| Language | Label | Description | Also known as |
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| default for all languages | ID_820983487 |
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| English | Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency |
Saguenay-Lac-Saint-Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterised by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. |
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CID11:ID_820983487
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dki-india-ID_820983487
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