Recognisable phenotypes associated with intracranial calcification

Intracranial calcification (ICC) is often considered to be of low diagnostic specificity. We present a methodology for systematic radiological descriptive phenotyping of ICC. This technique was applied to the imaging of 140 paediatric patients with known as well as unknown genetic abnormalities. A decision tree classification system achieved domain expert agreement of 90% in the phenotypic classification of Aicardi-Goutières syndrome, cerebroretinal microangiopathy with calcification and cysts , other known and unknown genetic disorders. We propose this methodology for diagnostic inclusion/exclusion as well as the identification of new genetic phenotypes derived from neuroimaging.