Pseudouridine synthase 3 deficiency

Synonym(s)
- Autosomal recessive intellectual disability type 55
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PUS3 / Pseudouridine Synthase 3
  11q24.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pseudouridine synthase 3
Disease group(s)
- 16.4.1 Disorders of non-mitochondrial tRNA processing