SAMHD1 deficiency

Synonym(s)
- Aicardi-Goutières syndrome type 5,
- stenosis, aneurysm, moyamoya and stroke (SAMS association)
Type

Disease
External link(s)
- IEMbase
Gene
- SAMHD1 / SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1
  20q11.23
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- SAM domain and HD domain-containing protein 1
Disease group(s)
- 9.1 Disorders of mitochondrial nucleotide pool maintenance