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GENATLAS PHENOTYPE

last update : 23-01-2023

Symbol	DBA17
Location	1q21.3
Name	Diamond-Blackfan anemia 17
Corresponding gene	RPS27
Main clinical features	red blood cell aplasia that usually presents in the first year of life with normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow also associated with growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations
Genetic determination	autosomal dominant
Function/system disorder	kidney and urinary tract
	hematology
Type	disease

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