Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome.

Since 1996, it has been known that patients with Simpson-Golabi-Behmel Syndrome (SGBS) have mutations in GPC3.

Buonuomo PS, Ruggiero A, Vasta I, et al.: Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome.

Perlman syndrome shares clinical overlaps with other overgrowth disorders with similarities to Beckwith-Wiedemann syndrome and Simpson-Golabi-Behmel syndrome having been particularly emphasized in scientific study.