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GENATLAS PHENOTYPE
last update : 13-01-2016
Symbol MGORS3
Location 16q11.2
Name Meier-Gorlin syndrome 3
Corresponding gene ORC6
Main clinical features
  • short stature, very small external ears, cryptorchidism in males, and various bone defects including absent or nonossified patellae, femoral asymmetry, coxa valga, abnormal ribs, sacral hypoplasia, skull defect, and abnormal development of sternum
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Remark(s)