Treacher Collins syndrome type 2

Type

Disease
External link(s)
- IEMbase
Gene
- POLR1D / RNA polymerase I subunit D
  13q12.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- DNA-directed RNA polymerase I subunit RPA4
Disease group(s)
- 16.5.1 RNA polymerase I disorders