About The Medical Condition Syndrome, Angelman
Find the definition of the medical term Syndrome, Angelman. Syndrome, Angelman defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Syndrome, Angelman
| Syndrome, Angelman Medical Condition |
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What's The Definition Of The Medical Condition Syndrome, Angelman?
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)
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