Temtamy Preaxial Brachydactyly Syndrome

About the Disease
Temtamy Preaxial Brachydactyly Syndrome, also known as preaxial brachydactyly syndrome, temtamy type, is related to brachydactyly and sensorineural hearing loss. An important gene associated with Temtamy Preaxial Brachydactyly Syndrome is CHSY1 (Chondroitin Sulfate Synthase 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include bone, eye and prostate, and related phenotypes are intellectual disability and global developmental delay

Common Targets
CHSY1

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