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GENATLAS PHENOTYPE

last update : 24-10-2011

Symbol	LSFC
Location	2p21
Name	Leigh syndrome, French-Canadian type
Other name(s)	cytochrome oxidase deficiency Leigh disease, Saguenay Lac Saint Jean type
Corresponding gene	LRPPRC
Main clinical features	characterized by moderate developmental delay and lactic acidosis, hypotonia, ataxia, strabismus and mild facial dysmorphism, a cytochrome oxydase deficiency and a mean life expectancy variously estimated at 3-5 years development delay, hypotonia, mild facial dysmorphism, chronic metabolic acidosis with episodes of severe acidosis and coma
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	leucine -rich PPR-motif containing

Remark(s)