Inosine triphosphatase deficiency

Synonym(s)
- Early infantile epileptic encephalopathy type 35
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ITPA / Inosine Triphosphate Pyrophosphatase
  20p13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Inosine triphosphate pyrophosphatase
Disease group(s)
- 16.2 Disorders of purine metabolism