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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Angelman Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Angelman Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Angelman Syndrome

Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Angelman Syndrome

Terme préférentiel

Angelman Syndrome

mesh:Descriptor

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)

Intellectual Disability

Happy Puppet Syndrome
Puppet Children

Qualificatif(s) autorisé(s)

Syndrome d'Angelman

français
Enfants marionnettes
Syndrome de la marionnette joyeuse
Syndrome du pantin hilare

URI

http://data.loterre.fr/ark:/67375/JVR-K3L5GLNL-M

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RDF/XML TURTLE JSON-LD Date de création 07/05/1992, dernière modification le 08/07/2013