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GENATLAS PHENOTYPE
last update : 22-02-2016
Symbol FRAS2
Location 13q13.3
Name Fraser syndrome 2
Other name(s) cryptophthalmos syndactyly syndrome 2
Corresponding gene FREM2
Main clinical features
  • absent or malformed lacrimal ducts, middle and outer ear malformations, high palate, cleavage along the midplane of nares and tongue, hypertelorism, laryngeal stenosis, syndactyly, displacement of umbilicus and nipples, primitive mesentery of small bowel, maldeveloped kidneys and genital malformations
  • Genetic determination autosomal recessive
    Function/system disorder eye
    kidney and urinary tract
    ear
    Type MCA/MR
    Gene product
    Name FRAS1 related extracellular matrix protein 2
    Remark(s)