has material basis in germline mutation in KCNJ6 Keppen-Lubinsky syndrome https://github.com/monarch-initiative/mondo/issues/10783 https://www.malacards.org/card/keppen_lubinsky_syndrome generalized lipodystrophy-progeroid features-severe intellectual disability syndrome generalised lipodystrophy-progeroid features-severe intellectual disability syndrome Keppen-Lubinsky syndrome UMLS:C3279800 Orphanet:435628 MONDO:0013572 Any hereditary lipodystrophy in which the cause of the disease is a variation in the KCNJ6 gene. It is characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. KPLBS MEDGEN:481430 OMIM:614098 GARD:0017716 hereditary lipodystrophy