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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)