Glycogen storage disease type 9b

(GSD9b)

Synonym(s)
- Phosphorylase kinase subunit beta deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PHKB / Phosphorylase Kinase Regulatory Subunit Beta
  16q12.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphorylase kinase regulatory subunit beta
Pathway
- Glycogen metabolism
Disease group(s)
- 3.4.2 Mixed/generalized glycogenoses