Aicardi-Goutieres syndrome 4
Findings
No curated finding names Aicardi-Goutieres syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.
Definition from the Mondo Disease Ontology (MONDO:0012472), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in childhood
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral calcificationHPOHP:0002514
- DystoniaHPOHP:0001332
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- HepatosplenomegalyHPOHP:0001433
- Progressive microcephalyHPOHP:0000253
- Severe global developmental delayHPOHP:0011344
- SpasticityHPOHP:0001257
- ThrombocytopeniaHPOHP:0001873
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RNASEH2AHGNC:18518
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: Aicardi-Goutieres syndrome 4
- Also called
- Aicardi-Goutieres syndrome caused by mutation in RNASEH2AAicardi-Goutieres syndrome type 4RNASEH2A Aicardi-Goutieres syndrome