brachydactyly type A2

Pathology

• functions as dominant negative

Genetics

• autosomal dominant
• associated with defects in BMPR1B
• associated with defects in GDF5

Clinical manifestations

• brachydactyly

Notes

• first described in a large Norwegian kindred

More general terms

• brachydactyly type A

Database

• OMIM: https://mirror.omim.org/entry/112600