Brachydactyly, Type A3 (BDA3)

Brachydactyly, Type A3, also known as brachydactyly type a3, is related to neurodevelopmental, jaw, eye, and digital syndrome and robin sequence with distinctive facial appearance and brachydactyly. An important gene associated with Brachydactyly, Type A3 is HOXD13 (Homeobox D13), and among its related pathways/superpathways is COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include heart and bone, and related phenotypes are clinodactyly of the 5th finger and cone-shaped epiphysis