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GENATLAS PHENOTYPE

last update : 26-02-2015

Symbol	COQ9D
Location	16q13
Name	coenzyme Q9 deficiency
Corresponding gene	COQ9
Other symbol(s)	COQ10D5
Main clinical features	neonatal lactic acidosis, seizures, global developmental delay, hypertrophic cardiomyopathy, renal tubular dysfunction cerebral and cerebellar atrophy, with primary coenzyme Q10 deficiency
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	multisystem/generalized
Type	disease

Remark(s)