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GENATLAS PHENOTYPE

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

Remark(s)