chromosome 17p13.1 deletion syndrome (DOID:0060402)
Alliance: disease page
Alt IDs: OMIM:613776, MESH:D054221
Definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is 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.