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GENATLAS PHENOTYPE

last update : 23-05-2018

Symbol	COXPD20
Location	6p21.33
Name	combined oxidative phosphorylation deficiency 20
Corresponding gene	VARS2
Main clinical features	severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, flap occiput, protruding tongue, prognathia, tremulous movement of limbs, apparent happy demeanor, easily excitable personality, and excessive chewing mouth behaviors in addition, there were severe growth hormone deficiency, hypogonadism, and severe osteomalacia
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	osteo-articular
	neurology
Type	disease

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