Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Aicardi-Goutieres syndrome · RNU7-1-related type 1 interferonopathy
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.
This condition has no sub-types.