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GENATLAS PHENOTYPE

last update : 27-05-2013

Symbol	COXPD9
Location	3q22.1
Name	combined oxidative phosphorylation deficiency 9
Corresponding gene	MRPL3
Main clinical features	normal growth and development in the first few months of life, and besides failure to thrive and poor feeding; hypertrophic cardiomyopathy and early death, hepatomegaly and psychomotor retardation laboratory studies showed increased plasma lactate and alanine, as well as abnormal liver enzymes
Genetic determination	autosomal recessive
Related entries	also hypertrophic cardiomyopathy, psychomotor retardation, and multiple respiratory chain deficiency (PMID: 21786366)
Function/system disorder	multisystem/generalized
Type	disease

Remark(s)