Agent Commons Collaborative Research
Aicardi-Goutieres syndrome 8
rareA 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.
- Identifiers
- MONDO:0030361 OMIM:619486
- Part of
- Aicardi-Goutieres syndrome
- Also known as
- AGS8
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