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GENATLAS PHENOTYPE

last update : 12-04-2016

Symbol	PIGGD
Location	4p16.3
Name	PIGG deficiency
Corresponding gene	PIGG
Other symbol(s)	MRT53
Main clinical features	intellectual disability, hypotonia, seizures, and ataxia seizures appeared early in life, and developmental delay was also documented early in life and evolved to uniform intellectual disability
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)