- Synonym(s)
- Familial chilblain lupus,
- retinal vasculopathy with cerebral leukodystrophy
- TypePhenotype
- External link(s)
- Associated genes
- TREX1 3' repair exonuclease 1 deficiency
- RNASEH2B Ribonuclease H2 subunit B deficiency
- RNASEH2C Ribonuclease H2 subunit C deficiency
- RNASEH2A Ribonuclease H2 subunit A deficiency
- SAMHD1 SAMHD1 deficiency
- ADAR RNA-specific adenosine deaminase 1 deficiency
- IFIH1 MDA5 superactivity
- LSM11 LSM11 deficiency
- RNU7-1 RNU7-1 deficiency
- SAMHD1 SAMHD1 deficiency
- TREX1 3' repair exonuclease 1 deficiency
- Disease group(s)