| Metadata | |
|---|---|
| ID | DOID:0111180 |
| Name | French Canadian Leigh disease |
| Definition | A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. https://www.ncbi.nlm.nih.gov/pubmed/12529507, https://www.ncbi.nlm.nih.gov/pubmed/21266382 |
| Xrefs |
SNOMEDCT_US_2023_03_01:718219002 |
| Subsets |
DO_rare_slim |
| Synonyms |
French Canadian type COX deficiency [EXACT] French Canadian type cytochrome c oxidase deficiency [EXACT] French Canadian type Leigh syndrome [EXACT] mitochondrial complex IV deficiency nuclear type 5 [EXACT] Saguenay Lac saint Jean type COX deficiency [EXACT] Saguenay Lac saint Jean type Leigh syndrome [EXACT] |
| Parent Relationships |