Aicardi-Goutieres syndrome 8
Aicardi-Goutieres syndrome 8
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.
Also known as AGS8, Aicardi-Goutieres syndrome 8 — per MONDO