Smith-Magenis syndrome (DOID:0060768)
Alliance: disease page
Synonyms: 17p11.2 microdeletion syndrome; chromosome 17p11.2 deletion syndrome
Alt IDs: OMIM:182290, ICD10CM:Q93.5, MESH:D058496, ORDO:819
Definition: A chromosomal deletion syndrome that is 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.