Preferred Label : Aicardi-Goutieres Syndrome 6;
NCIt synonyms : AGS6;
NCIt definition : An autosomal recessive condition caused by mutation(s) in the ADAR gene, encoding
double-stranded RNA-specific adenosine deaminase. Clinical features and onset may
vary significantly, but is characterized in its most severe form by cerebral atrophy,
leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis,
and increased concentrations of CSF alpha-interferon.;
Origin ID : C206070;
concept_is_in_subset
- disease_mapped_to_gene
