Number of the records: 1
Angelmanov syndróm
Record number d017204 Date 17.07.2026 Type M - MESH Topical term Angelmanov syndróm Other term English (Pseudonym) Happy Puppet Syndrome
English (Pseudonym) Puppet Children
Slovak (Pseudonym) syndróm šťastného dieťaťa
Slovak (Pseudonym) syndróm šťastnej bábky
Slovak (Pseudonym) deti anjelské
See also (Skutočné meno) postihnutie intelektuálne
UDC C10.228.662.075C16.131.077.095C16.131.260.040C16.320.180.040C16.320.447.250 Note A syndrome characterized by multiple abnormalities, INTELLECTUAL DISABILITY, 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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Number of the records: 1