Inositol-1,4,5-triphosphate receptor type 1 deficiency

Synonym(s)
- Gillespie syndrome,
- congenital non-progressive cerebellar ataxia
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ITPR1 / Inositol 1,4,5-Trisphosphate Receptor Type 1
  3p26.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Inositol 1,4,5-trisphosphate receptor type 1
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism
Child entries
- Spinocerebellar ataxia type 15
- Spinocerebellar ataxia type 29