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GENATLAS PHENOTYPE

last update : 11-07-2012

Symbol	MTO1D
Location	6q13
Name	MTO1 deficiency
Corresponding gene	MTO1
Main clinical features	infantile hypertrophic cardiomyopathy and lactic acidosis reduced fetal growth, hypotonia and severe metabolic acidosis, associated in any cases to bilateral optic atrophy
Genetic determination	autosomal recessive
Function/system disorder	eye
	cardiovascular
Type	MCA/MR

Remark(s)