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| Non-syndromic familial congenital anorectal malformations v0.118 | EDNRB | Eleanor Williams commented on gene: EDNRB: EDNRB is associated with ABCD syndrome, Waardenburg syndrome, type 4A and {Hirschsprung disease, susceptibility to, 2} in OMIM and ABCD SYNDROME in Gene2Phenotype. Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine and patients with Waardenburg syndrome can show Hirschsprung disease. Hirschspring disease is covered by the Familial Hirschsprung Disease panel in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations | EDNRB | Eleanor Williams commented on gene: EDNRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations | EDNRB | Eleanor Williams Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||