TREX1-related autosomal dominant Aicardi-Goutieres syndrome

Definition

Autosomal dominant form of Aicardi-Goutieres syndrome 1.

Also known as TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1), autosomal dominant, TREX1-related autosomal dominant Aicardi-Goutieres syndrome — per MONDO