Search on: ANGELMAN SYNDROME 
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Descriptor English:   Angelman Syndrome 
Descriptor Spanish:   Síndrome de Angelman 
Descriptor Portuguese:   Síndrome de Angelman 
Synonyms English:   Children, Puppet
Syndrome, Angelman
Syndrome, Happy Puppet
Happy Puppet Syndrome
Puppet Children  
Tree Number:   C10.228.662.075
C16.131.077.095
C16.131.260.040
C16.320.180.040
Definition English:   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) 
See Related English:   Intellectual Disability
 
History Note English:   93 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   30854 
Unique Identifier:   D017204 

Occurrence in VHL:
 
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