Aicardi-Goutieres syndrome 8
Findings
No curated finding names Aicardi-Goutieres syndrome 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.
Definition from the Mondo Disease Ontology (MONDO:0030361), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 2 of 2 reported patients
- Basal ganglia calcificationHPOHP:0002135
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- CSF pleocytosisHPOHP:0012229
- 2 of 2 reported patients
- Hypoplastic male external genitaliaHPOHP:0000050
- 2 of 2 reported patients
- IrritabilityHPOHP:0000737
- 2 of 2 reported patients · Neonatal onset
- Severe global developmental delay
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.
- LSM11HGNC:30860
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Aicardi-Goutieres syndrome 8
- Also called
- AGS8