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Rubinsteinov-Taybiho syndróm
SYS d012415 LBL 00000cx--j22000003--45-- 005 20240119201154.9 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a Rubinsteinov-Taybiho 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 91(72); was see under ABNORMALITIES, MULTIPLE 1972-90 $8 eng 300 1-
$a Abnormalities, Multiple (1968-1971) $8 eng 300 1-
$a Mental Retardation (1966-1971) $8 eng 330 1-
$a A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). $8 eng 450 $a Broad Thumb-Hallux Syndrome $5 e $8 eng 450 $a syndróm veľkých palcov na všetkých končatinách $5 e $8 slo 550 $3 sllk_un_auth*d008607 $Y Intellectual Disability $5 F $a postihnutie intelektuálne 686 $a C05.116.099.370.797 686 $a C05.660.207.850 686 $a C10.597.606.360.700 686 $a C16.131.077.804 686 $a C16.131.260.790 686 $a C16.131.621.207.850 686 $a C16.320.180.790 750 $a Rubinstein-Taybi Syndrome $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20010521 980 $x M
Počet záznamov: 1