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ENKeppen-Lubinsky Syndrome (KPLBS)
Alias:
Kplbs
Generalized Lipodystrophy-Progeroid Features-Severe Intellectual Disability Syndrome
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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
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