OnlineIMD

16.4.1    Disorders of non-mitochondrial tRNA processing

  • Type
    Group
  • Disease group(s)
    • 16.4    Disorders of non-mitochondrial tRNA processing and aminoacyl-tRNA synthetases
  • Child entries
    • tRNA splicing endonuclease subunit 2 deficiency
    • tRNA splicing endonuclease subunit 15 deficiency
    • tRNA splicing endonuclease subunit 34 deficiency
    • tRNA splicing endonuclease subunit 54 deficiency
    • CLP1 deficiency
    • tRNA methyltransferase 10A deficiency
    • tRNA methyltransferase 1 deficiency
    • DALRD3 deficiency
    • FTSJ RNA 2’-O-methyltransferase 1 deficiency
    • NSUN2 deficiency
    • tRNA-specific adenosine deaminase 3 deficiency
    • Elongator complex protein 1 deficiency
    • Elongator complex protein 2 deficiency
    • Cytosolic thyouridylase subunit 2 deficiency
    • tRNA N4-acetylcytidine transferase deficiency
    • Galloway-Mowat syndrome
    • Galloway-Mowat syndrome, type 1
    • Galloway-Mowat syndrome type 2
    • Galloway-Mowat syndrome type 3
    • Galloway-Mowat syndrome type 4
    • Galloway-Mowat syndrome type 5
    • Galloway-Mowat syndrome type 6
    • Galloway-Mowat syndrome type 7
    • Galloway-Mowat syndrome type 8
    • Galloway-Mowat syndrome type 9
    • Galloway-Mowat syndrome, type 10
    • Pseudouridine synthase 3 deficiency
    • AIMP1/p43 deficiency
    • AIMP2/p38 deficiency