FTSJ RNA 2’-O-methyltransferase 1 deficiency

Synonym(s)
- X-linked intellectual disability types 9 and 44
Type

Disease
External link(s)
- IEMbase
Gene
- FTSJ1 / FTSJ Methyltransferase 1
  Xp11.23
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- RNA methyltransferase
Disease group(s)
- 16.4.1 Disorders of non-mitochondrial tRNA processing