OnlineIMD
Mitochondrial sideroblastic anemia ± pancytopenia
Type
Phenotype
External link(s)
Orphanet
Associated genes
Gene list
YARS2
Mitochondrial tyrosyl-tRNA synthetase deficiency
PUS1
Pseudouridine synthase 1 deficiency
TRNT1
CCA-adding tRNA-nucleotidyltransferase deficiency
Parent entry
Mitochondrial hematological disease