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GENATLAS PHENOTYPE

last update : 18-05-2018

Symbol	COXPD8
Location	6p21.1
Name	combined oxidative phosphorylation deficiency-8
Corresponding gene	AARS2
Main clinical features	dysfunction of the mitochondrial respiratory chain clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, but there is also subtle skeletal muscle and brain involvement failure to thrive, delayed motor development, and severe generalized muscle weakness, with severe hypertrophic cardiomyopathy and decreased contractility invariable progression to severe disability and atrophy of involved brain regions, often within a decade (PMID: 31839000))
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	multisystem/generalized
Type	disease

Remark(s)