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Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 EDNRB Eleanor Williams Added phenotypes Waardenburg syndrome; ABCD syndrome; Hirschprung disease for gene: EDNRB
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 EDNRB Tracy Lester reviewed gene: EDNRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hirschprung disease, ABCD syndrome, Waardenburg syndrome; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 EDNRB Eleanor Williams reviewed gene: EDNRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 EDNRB Eleanor Williams gene: EDNRB was added
gene: EDNRB was added to Craniosynostosis. Sources: NHS GMS
Mode of inheritance for gene: EDNRB was set to