The candidate region, encompassing three genes, SLC2A13, LRRK2, and MUC19, was narrowed down to LRRK2. In addition to the microdeletion and clinical phenotype in DGP289A, two other DECIPHER cases (DCP250361 and DCP139) and two reported cases suggest a total of four 12q12 chromosomal segments which are likely involved in the clinical features of developmental delay/intellectual disability and craniofacial anomalies (Figure 2) [13,14]. Here, SLC2A13 is linked to Intellectual disability.