Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 22-02-2016
Symbol FRAS3
Location 12q14.3
Name Fraser syndrome 3
Corresponding gene GRIP1
Main clinical features
  • cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation
  • middle and outer ear malformations, high palate, cleavage along the midplane of nares and tongue, hypertelorism, laryngeal stenosis, syndactyly; wide separation of symphysis pubis, displacement of umbilicus and nipples
  • Genetic determination autosomal recessive
    Function/system disorder eye
    mental retardation
    osteo-articular
    sex-genitalia
    ear
    Type disease
    Remark(s)