POLR3GL-related disease

Synonym(s)
- Short stature, oligodontia, dysmorphic facies and psychomotor delay
Type

Disease
External link(s)
- IEMbase
Gene
- POLR3GL / RNA Polymerase III Subunit Related
  1q21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Polymerase III Related Protein
Disease group(s)
- 16.5.2 RNA polymerase III disorders
Child entries
- POLR3GL-related isolated hypgonadotropic hypgonadis