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GENATLAS PHENOTYPE
last update : 30-05-2018
Symbol DEL8Q24.3
Location 8q24.3
Name 8q24.3 deletion syndrome
Other name(s) Verheij syndrome
Corresponding gene PUF60
Other symbol(s) VRJS
Main clinical features
  • growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities; also coloboma, renal defects, and cardiac defects
  • Genetic determination not applicable
    Function/system disorder mental retardation
    osteo-articular
    Type MCA/MR
    Remark(s)