Phosphatidylinositol-4,5-bisphosphate phospholipase C beta 3 deficiency

Synonym(s)
- Spondylometaphyseal dysplasia with corneal dystrophy and developmental delay
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PLCB3 / Phospholipase C Beta 3
  11q13.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phospholipase C-beta-3
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism