CCA-adding tRNA-nucleotidyltransferase deficiency

Synonym(s)
- Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (severe),
- retinitis pigmentosa and erythrocytic microcytosis (milder)
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- TRNT1 / tRNA Nucleotidyl Transferase 1
  3p26.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- TRNA nucleotidyl transferase 1
Disease group(s)
- 10.1 Disorders of mitochondrial transcript processing and modification