nephropathy with pretibial epidermolysis bullosa & deafness

Genetics

• associated with defects in CD151

Clinical manifestations

• association of hereditary nephritis, epidermolysis bullosa, deafness, & beta-thalassemia minor

More general terms

• nephropathy
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/609057