Počet záznamov: 1
Angelmanov syndróm
SYS d017204 LBL 00000nx--j22000003--45-- 005 20240119201310.1 100 $a 19920507csloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 93 $8 eng 300 1-
$a Ataxia (1972-1992) $8 eng 300 1-
$a Mental Disorders (1967-1992) $8 eng 300 1-
$a Movement Disorders (1967-1992) $8 eng 330 1-
$a 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) $8 eng 450 $a Happy Puppet Syndrome $5 e $8 eng 450 $a Puppet Children $5 e $8 eng 450 $a syndróm šťastného dieťaťa $5 e $8 slo 550 $3 sllk_un_auth*d008607 $Y Intellectual Disability $5 F $a postihnutie intelektuálne 686 $a C10.228.662.075 686 $a C16.131.077.095 686 $a C16.131.260.040 686 $a C16.320.180.040 686 $a C16.320.447.250 750 $a Angelman Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920507 801 -2
$a SK $b BA006 $c 20000329 980 $x M
Počet záznamov: 1