CDKL5 and developmental and epileptic encephalopathy, 2: The largest inversion was a de novo 36.4-Mb variant (chrX:18,472,998–54,910,892, GRCh38) that disrupts CDKL5 in an individual with intellectual disability and seizures, consistent with a diagnosis of developmental and epileptic encephalopathy 2 (MIM: 300672).