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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)