Number of the records: 1
Angelmanov syndróm
SYS d017204 LBL 00000nz--a2200000o--4500 005 20250606213627.9 008 920507|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.662.075 065 $a C16.131.077.095 065 $a C16.131.260.040 065 $a C16.320.180.040 065 $a C16.320.447.250 066 $a 01 $c 03 150 $a Angelmanov syndróm $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 450 $w v $a Happy Puppet Syndrome $2 eng 450 $w v $a Puppet Children $2 eng 450 $w v $a syndróm šťastného dieťaťa $2 slo 550 $7 sllk_us_auth*d008607 $Y Intellectual Disability $w p $a postihnutie intelektuálne 665 $a 93 $2 eng 665 $a Ataxia (1972-1992) $2 eng 665 $a Mental Disorders (1967-1992) $2 eng 665 $a Movement Disorders (1967-1992) $2 eng 680 9-
$i 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) $2 eng 750 -2
$a Angelman Syndrome $2 eng 980 $x M
Number of the records: 1