Keppen-Lubinsky Syndrome (KPLBS)

Keppen-Lubinsky Syndrome, also known as kplbs, is related to hypergonadotropic hypogonadism-cataract syndrome and down syndrome. An important gene associated with Keppen-Lubinsky Syndrome is KCNJ6 (Potassium Inwardly Rectifying Channel Subfamily J Member 6). Affiliated tissues include skin and eye, and related phenotypes are progeroid facial appearance and congenital generalized lipodystrophy