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GENATLAS PHENOTYPE

last update : 26-02-2015

Symbol	KPLBS
Location	21q22.13
Name	Keppen Lubinsky syndrome
Corresponding gene	KCNJ6
Main clinical features	severe developmental delay and a distinct facial appearance with tightly adherent skin reminiscent of severe lipodystrophy generalized lipodystrophy, peculiar aged facial appearance with tight, thin skin overlying the facial bones and small pinched nose, and almost complete lack of psychomotor development microcephaly, large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, mental retardation
Genetic determination	not applicable
Function/system disorder	dermatology
	mental retardation
Type	disease

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