Genitopatellar Syndrome (GTPTS)

Genitopatellar Syndrome, also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome, is related to kat6b-related multiple congenital anomalies syndrome and gray platelet syndrome. An important gene associated with Genitopatellar Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include bone and heart, and related phenotypes are intellectual disability and coarse facial features