Smith-Magenis syndrome http://purl.bioontology.org/ontology/MEDDRA/10081680 http://purl.bioontology.org/ontology/MESH/D058496 http://purl.bioontology.org/ontology/SNOMEDCT/401315004 http://purl.obolibrary.org/obo/DOID_0060768 http://purl.obolibrary.org/obo/NCIT_C75469 https://en.wikipedia.org/wiki/Smith%E2%80%93Magenis_syndrome https://www.wikidata.org/wiki/Q2295338 17p11.2 microdeletion syndrome 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. SMS Smith–Magenis syndrome chromosome 17p11.2 deletion syndrome microdeletion syndrome