616084.1

Saudi Arabia

Developmental regression; Recurrent fever; Anemia; Neutropenia; Pancytopenia; Immunodeficiency

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_182916.3:c.644A>G	2		Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay