O-phosphoseryl-tRNA(Sec) selenium transferase deficiency

Synonym(s)
- Selenocysteinyl-tRNA(Sec) synthase deficiency,
- progressive cerebellocerebral atrophy,
- pontocerebellar hypoplasia type 2D
Type

Disease
External link(s)
- IEMbase
Gene
- SEPSECS / Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
  4p15.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
Disease group(s)
- 22.5 Other disorders of trace element metabolism