Aicardi-Goutieres syndrome 7

Term ID

DOID:0061361

Synonyms

• AGS7

Definition

A Aicardi-Goutieres syndrome characterized by severe neurologic impairment and that has_material_basis_in heterozygous gain-of-function mutation in the IFIH1 gene on chromosome 2q24.2. https://pubmed.ncbi.nlm.nih.gov/24686847/

References

• MIM:615846

Ontology

Human Disease   ( DOID:0061361 )