Summary Literature (0)

DOID:0060768 - Smith-Magenis syndrome

Disease Ontology Definition: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.

Synonyms: 17p11.2 microdeletion syndrome, chromosome 17p11.2 deletion syndrome,

Echinobase Genes :


OMIM:

MIM:182290 - smith-magenis syndrome; sms

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee