BCOR and microphthalmia, syndromic 2: Nonetheless, we found pathogenic mutations for specific developmental syndromes with CC and CHD as manifestations, including BCOR mutations for OFCD syndrome (DECIPHER ID 262217, 267974, and 303226), and the 11q21.1 deletion for 1q21.1 rearrangements of chromosome 1q21.1 (DECIPHER ID 323303).