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GENATLAS PHENOTYPE
last update : 13-01-2016
Symbol MGORS4
Location 16q24.3
Name Meier-Gorlin syndrome 4
Corresponding gene CDT1
Main clinical features
  • microcephaly but no mental retardation; on radiography, absent or hypoplastic patella, abnormal glenoid fossa, hook-shaped clavicles, and long slender bones
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Remark(s)