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Angelmanov syndróm
Č. záznamu d017204 Dátum 17.07.2026 Typ M - MESH Tematický termín Angelmanov syndróm Iný termín Angličtina (Pseudonym) Happy Puppet Syndrome
Angličtina (Pseudonym) Puppet Children
Slovenčina (Pseudonym) syndróm šťastného dieťaťa
Slovenčina (Pseudonym) syndróm šťastnej bábky
Slovenčina (Pseudonym) deti anjelské
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, 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) 
predmetové heslo
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