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GENATLAS PHENOTYPE

last update : 03-06-2009

Symbol	DBA8
Location	2p25
Name	Diamond-Blackfan anemia 8
Corresponding gene	RPS7
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
Function/system disorder	hematology
Type	disease

Remark(s)