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GENATLAS PHENOTYPE
last update : 10/07/2006
Symbol HSCR2
Location 13q22.3
Name Hirschsprung disease 2
Corresponding gene EDNRB
Main clinical features
  • absence of enteric ganglia along a variable length of the intestine, in any cases associated with white forelock, hearing deficit, and heterochromia iridis
  • Genetic determination autosomal recessive
    Related entries . sometimes associated with Waardenburg syndrome, type 4, Shah-Waardenburg syndrome, see also WS4A
    Function/system disorder congenital malformation
    digestive tract/gastrointestinal
    Type disease
    Gene product
    Name endothelin receptor B (EDNRB)
    Remark(s)