Of the 8 cases with P/LP CNVs, 6 cases were known as microdeletion/microduplication syndromes, including 1p36 microdeletion syndrome, 16p11.2 microdeletion syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), Axenfeld-Rieger syndrome type 3 (RIEG3), ATR-16 syndrome and Simpson-Golabi-Behmel Syndrome Type 1 (SGBS1). Here, FOXC1 is linked to Axenfeld-Rieger syndrome.