Number of the records: 1  

Angelmanov syndróm

  1. Record numberd017204
    Date06.06.2025
    TypeM
    Topical termAngelmanov syndróm
    Other termEnglish (Pseudonym) Happy Puppet Syndrome
    English (Pseudonym) Puppet Children
    Slovak (Pseudonym) syndróm šťastného dieťaťa
    See also(Skutočné meno) postihnutie intelektuálne
    UDCC10.228.662.075C16.131.077.095C16.131.260.040C16.320.180.040C16.320.447.250
    NoteA 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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Number of the records: 1  

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