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GENATLAS PHENOTYPE
last update : 25-09-2019
Symbol GAMOS2
Location Xq28
Name Galloway-Mowat syndrome 2
Corresponding gene LAGE3
Main clinical features
  • renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development
  • frequent dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia.
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    mental retardation
    neurology
    Type disease
    Remark(s)