NHLRC1-related Lafora disease

Synonym(s)
- Progressive myoclonic epilepsy type 2B
Type

Disease
External link(s)
- IEMbase
Gene
- NHLRC1 / NHL Repeat Containing E3 Ubiquitin Protein Ligase 1
  6p22.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- NHL repeat-containing E3 ubiquitin-protein ligase 1
Pathway
- Glycogen metabolism
Parent entry
- Lafora disease