Potocki-Shaffer syndrome

Genetics

• associated with defects in EXT2 & ALX4
• contiguous gene syndrome due to proximal deletion of chromosome 11p11.2, including EXT2 & ALX4

Clinical manifestations

• parietal foramina 2

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/601224