Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase deficiency

Synonym(s)
- Opsismodysplasia
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- INPPL1 / Inositol Polyphosphate Phosphatase Like 1
  11q13.4
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylinositol phosphatase
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism