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GENATLAS PHENOTYPE

last update : 18/07/2006

Symbol	LDHCP
Location	1q22
Name	lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy and leukomelanodermic papules
Corresponding gene	LMNA
Other symbol(s)	LIRLLC
Main clinical features	square jaw, thin lips, high forehead, marked thinning of the eyebrows, pectus excavatum, and narrow shoulders, generalized atrophy of subcutaneous fat, concentric hypertrophy of the left ventricle without cavity dilatation associated with thickened and regurgitant valves, aortic fibrotic nodules, and calcification of the posterior annulus
Genetic determination	not applicable
Function/system disorder	connective tissue
	cardiovascular
	dermatology
Type	disease

Gene product

Name

lamin A/C

Remark(s)