The Myomaker gene encodes a transmembrane protein that is found on the surface of muscle cells. Mutations in this protein result in failure of myoblast fusion.
Carey Fineman Ziter syndrome
Sabinas brittle hair syndrome
Rosenthal–Kloepfer syndrome
Weissenbacher–Zweymüller syndrome
Schinzel–Giedion syndrome
Tetra-amelia syndrome
Galloway Mowat syndrome
Melkersson–Rosenthal syndrome