CTDNEP1 and Neurodevelopmental delay: Mooneyham et al. reported two patients with neurodevelopmental delays and absolute/relative macrocephaly with a shared region of 62.5 kb on the 17p13.1, suggesting that DULLARD, DLG4, and GABARAP genes would be the candidate genes for neurodevelopmental delays identified in this patient (GRCh37/hg19, chr17:g.7094072_7156584) (Mooneyham et al., 2014).