Aicardi-Goutieres syndrome 2

Term ID

DOID:0061356

Synonyms

• AGS2

Definition

A Aicardi-Goutieres syndrome characterized by calcification of the basal ganglia, chronic cerebrospinal fluid lymphocytosis, and negative serologic investigations for common prenatal infections and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding subunit B of ribonuclease H2, RNASEH2B, on chromosome 13q14.3. https://pubmed.ncbi.nlm.nih.gov/16845400/

References

• MIM:610181

Ontology

Human Disease   ( DOID:0061356 )