tRNA splicing endonuclease subunit 54 deficiency

Synonym(s)
- Pontocerebellar hypoplasia types 2A, 4 and 5
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- TSEN54 / TSEN54
  17q25.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- tRNA splicing endonuclease subunit 54
Disease group(s)
- 16.4.1 Disorders of non-mitochondrial tRNA processing