Skip navigation

Disease Angelman Syndrome

Name Angelman Syndrome
Synonyms ANCR, INCLUDED | AS | Children, Puppet | Happy Puppet Syndrome | HAPPY PUPPET SYNDROME, FORMERLY ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED | Puppet Children | Syndrome, Angelman | Syndrome, Happy Puppet
Definition 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)
Categories Congenital abnormality | Genetic disease (inborn) | Nervous system disease
MeSH® ID D017204
OMIM® ID 105830
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Movement Disorders Has associated chemicals Has associated genes Has associated exposure references Angelman Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Angelman Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Angelman Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Angelman Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Angelman Syndrome Has associated chemicals Has associated genes
  Happy puppet syndrome (formerly)