Number of the records: 1  

Angelmanov syndróm

  1. Record numberd017204
    Date06.06.2025
    TypeM - MESH
    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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