Inositol polyphosphate 5-phosphatase K deficiency

Synonym(s)
- Congenital muscular dystrophy with cataracts and intellectual disability
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- INPP5K / Inositol Polyphosphate-5-Phosphatase K
  17p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Inositol polyphosphate-5-phosphatase
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism