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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-06-2009
Symbol DBA5
Location 3q29
Name Diamond-Blackfan anemia 5
Corresponding gene RPL35A
Main clinical features
  • congenital hypoplastic anemia, usually presents early in infancy
  • in 30 to 40% of patients, associated to other congenital anomalies, particularly of the upper limb and craniofacial regions
    Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease