Počet záznamov: 1
Praderovej-Williho syndróm
SYS d011218 LBL 00000cx--j22000003--45-- 005 20240119201136.7 100 $a 19920413csloy0103----ba0 152 $b mesh 250 $a Praderovej-Williho 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 1977 $8 eng 300 1-
$a Abnormalities, Multiple (1968-1976) $8 eng 300 1-
$a Carbohydrate Metabolism, Inborn Errors (1969-1976) $8 eng 300 1-
$a Hypogonadism (1966-1976) $8 eng 300 1-
$a Mental Retardation (1966-1976) $8 eng 300 1-
$a Obesity (1966-1976) $8 eng 330 1-
$a An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) $8 eng 450 $a Labhart-Willi Syndrome $5 e $8 eng 450 $a Royer Syndrome $5 e $8 eng 450 $a Labhartov-Williho syndróm $5 e $8 slo 450 $a Royerov syndróm $5 e $8 slo 450 $a HHHO (hypotonia, hypomentia, hypogonadizmus, obesitas) $5 e $8 slo 550 $3 sllk_un_auth*d008607 $Y Intellectual Disability $5 F $a postihnutie intelektuálne 686 $a C10.597.606.360.690 686 $a C16.131.077.730 686 $a C16.131.260.700 686 $a C16.320.180.700 686 $a C16.320.447.500 686 $a C18.654.726.750.500.740 750 $a Prader-Willi Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920413 801 -2
$a SK $b BA006 $c 20010425 980 $x M
Počet záznamov: 1