PPP2R2B and craniodiaphyseal dysplasia: Patient CC7, had a de novo frameshift in PPP2R2B, a gene linked to spinocerebral ataxia, and inherited damaging alleles in the PPI pair THBS1 + COL7A1. Whether PPP2R2B will eventually confer the spinocerebral ataxia phenotype (late onset) to that patient and the CDD is caused by the variants in PPI is not known.