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GENATLAS PHENOTYPE

last update : 14/11/2005

Symbol	WS4B
Location	20q13.32
Name	Waardenburg syndrome, type 4B
Other name(s)	Shah-Waardenburg syndrome Waardenburg-Hirsprung syndrome
Corresponding gene	EDN3
Other symbol(s)	EDNR
Main clinical features	partial albinism, deafness, without dystopia canthorum, associated with Hirschsprung disease
Genetic determination	autosomal recessive
	autosomal dominant
Related entries	see also HSCR4
Function/system disorder	congenital malformation
	digestive tract/gastrointestinal
	ear
Type	disease

Gene product

Name	endothelin 3 (EDN3)

Remark(s)