Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 1 deficiency

Synonym(s)
- Early infantile epileptic encephalopathy type 12
Type

Disease
External link(s)
- IEMbase
Gene
- PLCB1 / Phospholipase C Beta 1
  20p12.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phospholipase C beta-1
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism