Ectonucleoside triphosphate diphosphohydrolase 1 deficiency

Synonym(s)
- Autosomal recessive spastic paraplegia type 64
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ENTPD1 / Ectonucleoside Triphosphate Diphosphohydrolase 1
  10q24.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Ectonucleoside triphosphate diphosphohydrolase 1
Disease group(s)
- 16.3 Disorders of ectonucleotide and nucleic acid metabolism