chromosomal deletion syndrome Smith-Magenis syndrome 17p11.2 microdeletion syndrome GARD:8197 chromosome 17p11.2 deletion syndrome disease_ontology MESH:D058496 ICD10CM:Q93.5 A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. ORDO:819 OMIM:182290 DOID:0060768