PCDH19 and X-linked intellectual disability - epilepsy: The PCDH19 c.1682C>T (p.Pro561Leu) and c.1031C>T (p.Pro344Leu) variants are classified as pathogenic mutations (based on multiple consistent submissions and citing articles) and are associated with Developmental and Epileptic Encephalopathy 9 (OMIM#300088) through the ClinVar database.