Aicardi-Goutieres syndrome 9
A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.
MONDO:0018866
Aicardi-Goutieres syndrome
is_a
MONDO:0700263
RNU7-1-related type 1 interferonopathy
is_a
AGS9
exact
Aicardi-Goutieres syndrome 9
exact