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GENATLAS PHENOTYPE
last update : 10-01-2019
Symbol ORDMR
Location 11q13.1
Name overgrowth, renal dysplasia predisposing to Wilms tumor, mental retardation
Other name(s) Thauvin-Robinet-Faivre syndrome
Corresponding gene FIBP
Other symbol(s) TROFAS
Main clinical features
  • generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties, retinal coloboma; more variable features may include congenital heart defects, kidney abnormalities, and skeletal defects
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    kidney and urinary tract
    Type MCA/MR
    Remark(s)