Aicardi-Goutieres syndrome 9

MONDO:0030362

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.

Also known as: AGS9, Aicardi-Goutieres syndrome 9

52 clinical trials for this condition and its sub-types, 0 tagged with Aicardi-Goutieres syndrome 9 itself.

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↑ Aicardi-Goutieres syndrome (9) ↑ RNU7-1-related type 1 interferonopathy (0)

Including sub-types (52) Tagged with Aicardi-Goutieres syndrome 9 (0)

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