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GENATLAS PHENOTYPE

last update : 02-01-2023

Symbol	DBA14
Location	Xp11.22
Name	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Corresponding gene	TSR2
Main clinical features	microtia and cleft palate, micrognathia, midface hypoplasia associated with Diamond-Blackfan anemia 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
Genetic determination	autosomal recessive
Function/system disorder	ear
	hematology
Type	disease

Remark(s)