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GENATLAS PHENOTYPE

last update : 29-03-2014

Symbol	SAPS
Location	2p11.2
Name	Salt & Pepper syndrome
Corresponding gene	ST3GAL5
Main clinical features	severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation, mental retardation
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	mental retardation
	neurology
Type	disease

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