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GENATLAS PHENOTYPE

last update : 26-02-2015

Symbol	COQ10D7
Location	9q34.11
Name	Coenzyme Q10 deficiency, primary, 7
Corresponding gene	COQ4
Main clinical features	neonatal lactic acidosis, seizures, global developmental delay, hypertrophic cardiomyopathy, renal tubular dysfunction cerebral and cerebellar atrophy, with primary coenzyme Q10 deficiency prenatal or perinatal onset with a fatal outcome in the first days of life
Genetic determination	autosomal recessive
Function/system disorder	neurology
	cardiovascular
	kidney and urinary tract
Type	disease

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