CPAP and microcephalic primordial dwarfism: We considered the missense mutation, NM_018451.4:c.3586G>A;p.(Asp1196Asn), of CENPJ causative of Seckel syndrome in family 4 because it was not recorded in any of the genomic variation databases and predicted to be pathogenic with a CADD score of 28.1, likely pathogenic (PM1, PM2, PP3, PP5) by the ACMG classification system and disease-causing by Mutation Taster, PROVEAN, Polphen-2, PhD-SNP, SIFT, SNAP, Meta SNP, MuPro and MetaDome (Table 2).