Loading...
Header Logo

Please contact dabioye@childrensnational.org for any questions. Can't find your name in profiles ? Request a Profile

Keywords
Last Name
Institution

Angelman Syndrome

"Angelman Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

expand / collapse MeSH information
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)


expand / collapse publications
This graph shows the total number of publications written about "Angelman Syndrome" by people in this website by year, and whether "Angelman Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
_