Genitopatellar Syndrome

About the Disease
Genitopatellar Syndrome, also known as absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, 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, heart and testes, and related phenotypes are intellectual disability and coarse facial features

Common Targets
KAT6B | HOXA5

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