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GENATLAS PHENOTYPE

last update : 27-06-2023

Symbol	CIA30D
Location	15q15.1
Name	CIA30 deficiency
Corresponding gene	NDUFAF1
Main clinical features	cardioencephalomyopathy, myopathy, visual impairment, kyphoscoliosis and mild intellectual handicap , with reduction in complex I activity in lymphoblasts and fibroblasts also fatal infantile hypertrophic cardiomyopathy, with complex I misassembly
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	neuromuscular
	mental retardation
Type	disease

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