Galloway-Mowat syndrome type 5

Type

Disease
External link(s)
- IEMbase
Gene
- TPRKB / Thymidine Phosphorylase Regulating Kinase Beta
  2p13.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Thymidine phosphorylase regulating kinase beta
Disease group(s)
- 16.4.1 Disorders of non-mitochondrial tRNA processing