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GENATLAS PHENOTYPE

last update : 30-06-2012

Symbol	NDUFS3
Location	11p11.11
Name	Leigh syndrome, late onset
Corresponding gene	NDUFS3
Main clinical features	optic atrophy, convulsions, severe axial dystonia, oral and pharyngeal motor dysfunction, dysphagia and complex 1 deficiency
Genetic determination	autosomal recessive
Function/system disorder	eye
	neurology
Type	disease

Gene product

Name	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q)

Remark(s)