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GENATLAS PHENOTYPE

last update : 20/06/2006

Symbol	COX15D
Location	10q24
Name	COX15 deficiency
Corresponding gene	COX15
Main clinical features	with hypotonia, motor regression, microcephaly and retinopathy, spasticity of the lower limbs, lactic acidosis, and at the IRM, bilateral lesions in the basal ganglia including cases with Leigh syndrome and fatal hypertrophic cardiomyopathy
Genetic determination	autosomal recessive
Function/system disorder	neurology
	mental retardation
Type	disease

Gene product

Name	COX15 homolog, cytochrome c oxidase assembly protein (yeast)

Remark(s)

mitochondrial complex IV deficiency