Smith-Magenis syndrome

Disease Export to PDF
Name:
Smith-Magenis syndrome
Description:
A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).
ORPHAcode:
819
Synonyms:
17p11.2 microdeletion syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14