Phosphatidylinositol-4,5-bisphosphate 5-phosphatase deficiency

Synonym(s)
- Lowe syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- OCRL / Inositol Polyphosphate-5-Phosphatase, OCRL1
  Xq26.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Inositol polyphosphate 5-phosphatase OCRL-1
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism
Child entries
- Dent disease type 2