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GENATLAS PHENOTYPE

last update : 12-11-2020

Symbol	COXPD24
Location	11q14.1
Name	combined oxidative phosphorylation deficiency 24
Corresponding gene	NARS2
Main clinical features	in infancy, delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment due to auditory neuropathy less common features may include cortical blindness, renal dysfunction, and/or liver involvement, suggestive of Alpers syndrome severe phenotype tend to have brain abnormalities on imaging, including cerebral atrophy and hyperintensities in the basal ganglia and brainstem, consistent with Leigh syndrome, with early death
Genetic determination	autosomal recessive
Function/system disorder	neurology
	ear
Type	disease

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