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GENATLAS PHENOTYPE
last update : 06-11-2018
Symbol TETAMS1
Location 17q21.31
Name tetra-amelia syndrome 1
Corresponding gene WNT3
Main clinical features
  • complete limb agenesis, urogenital defect, cataract and microphthalmia, cleft lip and palate, diaphragmatic defect, gastroschisis and single nares
  • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    eye
    limbs
    Type disease
    Gene product
    Name wingless-type MMTV integration site family, member 3
    Remark(s)