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

Synonym(s)
- Auriculocondylar syndrome type 2
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PLCB4 / Phospholipase C Beta 4
  20p12.3-p12.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phospholipase C-beta-4
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism