MDA5 superactivity

Synonym(s)
- Aicardi-Goutières syndrome type 7,
- Singleton-Merten syndrome type 1
Type

Disease
External link(s)
- IEMbase
Gene
- IFIH1 / Interferon Induced With Helicase C Domain 1
  2q24.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Interferon-induced helicase C domain-containing protein 1
Disease group(s)
- 16.3 Disorders of ectonucleotide and nucleic acid metabolism
Child entries
- Singleton-Merten dysplasia