The microdeletion, around 1.6 million base pairs, in length and encompasses 5 known genes and 17 uncharacterised transcripts. These include transferrin receptor, choline-phosphate cytidylyltransferase A, RNF168, serine/threonine-protein kinase, nuclear cap-binding protein complex, melanotransferrin, DLG1 and D-beta-hydroxybutyrate dehydrogenase
3q29 microdeletion syndrome
17q12 microdeletion syndrome
2q37 deletion syndrome
13q deletion syndrome
1p36 deletion syndrome
22q13 deletion syndrome
9q34 deletion syndrome
22q11.2 distal deletion syndrome