Id http://purl.bioontology.org/ontology/CSP/5002-0024
http://purl.bioontology.org/ontology/CSP/5002-0024
Preferred Name

Smith Magenis syndrome

Definitions
a rare chromosomal disorder characterized by abnormalities of the craniofacial area (brachycephaly, prognathism, cleft palate), delays in the acquisition of skills requiring the coordination of mental and muscular activities, mental retardation; most affected individuals experience speech delays that may occur in association with hearing impairment; behavioral abnormalities may include hyperactivity and self-destructive behavior.
Type http://www.w3.org/2002/07/owl#Class
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