Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. The disease is Monarch Disease Ontology entry MONDO_0017867 (distal 17p13.1 microdeletion syndrome). Also known as: distal del(17)(p13.1).