Co-occurrence of a novel variant and likely pathogenic variant in in an individual with extensive intracranial calcifications and hypocalcaemia.

This case report describes an individual with brain calcifications, cognitive decline, motor dysfunction, and hypocalcaemia. Exome sequencing revealed a previously reported variant in the gene and a variant of uncertain significance in . The clinical phenotype is likely explained by the variant, but we discuss how the variant could also participate in the phenotype.