Glucocerebrosidase receptor deficiency

Synonym(s)
- Progressive myoclonic epilepsy type 4,
- action myoclonus-renal failure syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SCARB2 / Scavenger Receptor Class B Member 2
  4q21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Scavenger receptor class B member 2
Parent entry
- 20.8 Other disorders of complex molecule degradation