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GENATLAS PHENOTYPE

last update : 13/07/2006

Symbol	CLM
Location	7q31.1
Name	cutis laxa, neonatal, with marfanoid phenotype
Corresponding gene	LAMB1
Other symbol(s)	CLMP
Main clinical features	cutis laxa, emphysema, striking cardiac abnormalities, diaphragmatic hernia , mild contractures at the elbows, hips, and knees, with bilateral hip dislocation, and arachnodactyly
Genetic determination
Function/system disorder	connective tissue
Type	disease

Gene product

Name	laminin B1 (LAMB1)

Remark(s)