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GENATLAS PHENOTYPE

last update : 09-05-2014

Symbol	COXPD19
Location	6p25.1
Name	combined oxidative phosphorylation deficiency 19
Corresponding gene	LYRM4
Main clinical features	mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period
Genetic determination	autosomal dominant
Function/system disorder	multisystem/generalized
Type	disease

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