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GENATLAS PHENOTYPE

last update : 10-10-2017

Symbol	MRXS30
Location	Xq24
Name	mental retardation, syndromic 30, Nascimento-type
Corresponding gene	UBE2A
Main clinical features	mental retardation with macrocephaly, synophris, microgenitalism, widely spaced nipples, marked hirsutism, seizures, severe speech impairment
Genetic determination	sex linked
Function/system disorder	neurology
	sex-genitalia
	dermatology
Type	MCA/MR

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