OBO ID: DOID:0111180
Term Name: French Canadian Leigh disease Search Ontology:
Synonyms:
  • French Canadian type COX deficiency
  • French Canadian type cytochrome c oxidase deficiency
  • French Canadian type Leigh syndrome
  • mitochondrial complex IV deficiency nuclear type 5
  • Saguenay Lac saint Jean type COX deficiency
  • Saguenay Lac saint Jean type Leigh syndrome
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. (2)
References:
Ontology: Human Disease   ( DOID:0111180 )
Relationships
is a type of:
OTHER French Canadian Leigh disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LRPPRC Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) 220111
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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