Aicardi-Goutieres syndrome 8
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.
MONDO:0018866
Aicardi-Goutieres syndrome
is_a
AGS8
exact
Aicardi-Goutieres syndrome 8
exact