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Angelmanov syndróm
Č. záznamu d017204 Dátum 06.06.2025 Typ M - MESH Tematický termín Angelmanov syndróm Iný termín Angličtina (Pseudonym) Happy Puppet Syndrome
Angličtina (Pseudonym) Puppet Children
Slovenčina (Pseudonym) syndróm šťastného dieťaťa
Pozri tiež (Skutočné meno) postihnutie intelektuálne
MDT C10.228.662.075C16.131.077.095C16.131.260.040C16.320.180.040C16.320.447.250 Poznámka 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) 
predmetové heslo
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