UGDH:Ensemblv115

UDP-glucose 6-dehydrogenase
OMIM: 603370, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green UGDH in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 84 - MIM #618792