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GENATLAS PHENOTYPE

last update : 22-05-2017

Symbol	COXPD14
Location	6p25.1
Name	combined oxidative phosphorylation deficiency 14
Corresponding gene	FARS2
Main clinical features	severe multisystemic disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis infantile onset epilepsy and encephalopathy, drug-resistant infantile spasms associated with focal seizures axial hypotonia, mild distal hypertonia, and psychomotor delay; the magnetic resonance imaging showed microcephaly, frontal cerebral atrophy, and signal changes of dentate nuclei
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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