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GENATLAS PHENOTYPE

last update : 27-12-2017

Symbol	CLOVES
Location	3q26.32
Name	congenital lipomatous overgrowth, vascular malformations, and epidermal nevi syndrome
Corresponding gene	PIK3CA
Main clinical features	overgrowth syndrome with only some similarities to Proteus syndrome progressive, complex, and mixed primarily truncal vascular malformations, dysregulated adipose tissue, varying degrees of scoliosis, and enlarged, but not severely distorted, bony structures without progressive overgrowth.
Genetic determination
Function/system disorder
Type	MCA/MR

Remark(s)

somatic mosaicism for postzygotic activating mutations in the PIK3CA gene