Blepharo-cheilo-odontic Syndrome

About the Disease
Blepharocheilodontic Syndrome 1, also known as blepharocheilodontic syndrome, is related to blepharocheilodontic syndrome 2 and euryblepharon. An important gene associated with Blepharocheilodontic Syndrome 1 is CDH1 (Cadherin 1), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cell junction organization. Affiliated tissues include eye, spinal cord and thyroid, and related phenotypes are distichiasis and ectropion of lower eyelids

Common Targets
G999

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