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GENATLAS PHENOTYPE

last update : 27-06-2018

Symbol	HSCR4
Location	20q13.32
Name	Hirschsprung disease 4
Other name(s)	megacolon, aganglionic
Corresponding gene	EDN3
Main clinical features	isolated (dominant form), or associated with Waardenburg syndrome, type 4, Shah-Waardenburg syndrome (recessive form)
Genetic determination	not applicable
Function/system disorder	congenital malformation
	digestive tract/gastrointestinal
Type	disease

Gene product

Name	endothelin 3 (EDN3)

Remark(s)