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GENATLAS PHENOTYPE

last update : 11/10/06

Symbol	COXPD2
Location	12q13-q14
Name	combined oxidative phosphorylation deficiency-2
Corresponding gene	TSFM
Main clinical features	muscular hypotonia, sucking weakness, and severe lactic acidosis, followed by rhabdomyolysis with elevated creatine kinase values, generalized convulsions began on the third day of life.and death of progressive encephalomyopathy and respiratory failure
Genetic determination	autosomal recessive
Function/system disorder	multisystem/generalized
	neuromuscular
Type	disease