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GENATLAS PHENOTYPE
last update : 02-09-2009
Symbol PCLD
Location 5q35.3
Name primary congenital lymphedema
Corresponding gene FLT4
Main clinical features
  • lymphoedema at birth; swelling bilateral and below the knees, accompanied by hypoplastic right fourth toe
  • abnormalities of the external genitalia as a deformation sequence resulting from intrauterine edema and intestinal lymphedema
  • Genetic determination autosomal recessive
    Function/system disorder connective tissue
    Type disease
    Remark(s)