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GENATLAS PHENOTYPE
last update : 05-03-2010
Symbol DBA10
Location 12q13.2
Name Diamond-Blackfan anemia 10
Corresponding gene RPS26
Main clinical features
  • congenital hypoplastic anemia, usually presents early in infancy in 30 to 40 p100 of patients, associated to other congenital anomalies, particularly of the upper limb and craniofacial regions
  • Genetic determination autosomal recessive
    Prevalence present in about 6.4p100 of the DBA
    Function/system disorder hematology
    Type malformation
    Remark(s)