POLR3GL

RNA polymerase III subunit G like
OMIM: 617457, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber POLR3GL in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM), MIM#619234
  • endosteal hyperostosis
  • oligodontia
  • growth retardation
  • facial dysmorphisms
  • lipodystrophy