WDR62 and atrial septal defect: Pure 17q25.3 submicroscopic copy number gains are also infrequent, and have been observed in association with distal arthrogryposis, craniofacial dysmorphism and atrial septal defect (ASD) [11]; intellectual disability [12, 13]; and with severe microcephaly with concurrent mutation in WDR62 [14].