Home Page
References OMIM Gene GeneReviews HGMD HGNC
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)