Treacher Collins syndrome type 1

Type

Disease
External link(s)
- IEMbase
Gene
- TCOF1 / Treacle Ribosome Biogenesis Factor 1
  5q32-q33.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Treacle
Disease group(s)
- 16.5.1 RNA polymerase I disorders