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Rubinsteinov-Taybiho syndróm
SYS d012415 LBL 00000cz--a2200000o--4500 005 20250606213146.0 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C05.116.099.370.797 065 $a C05.660.207.850 065 $a C10.597.606.360.700 065 $a C16.131.077.804 065 $a C16.131.260.790 065 $a C16.131.621.207.850 065 $a C16.320.180.790 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Broad Thumb-Hallux Syndrome $2 eng 450 $w v $a syndróm veľkých palcov na všetkých končatinách $2 slo 550 $7 sllk_us_auth*d008607 $Y Intellectual Disability $w p $a postihnutie intelektuálne 665 $a 91(72); was see under ABNORMALITIES, MULTIPLE 1972-90 $2 eng 665 $a Abnormalities, Multiple (1968-1971) $2 eng 665 $a Mental Retardation (1966-1971) $2 eng 680 9-
$i 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). $2 eng 750 -2
$a Rubinstein-Taybi Syndrome $2 eng 980 $x M
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