Number of the records: 1
Praderovej-Williho syndróm
SYS d011218 LBL 00000cz--a2200000n--4500 005 20250606213918.2 008 920413|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.597.606.360.690 065 $a C16.131.077.730 065 $a C16.131.260.700 065 $a C16.320.180.700 065 $a C16.320.447.500 065 $a C18.654.726.750.500.740 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Labhart-Willi Syndrome $2 eng 450 $w v $a Royer Syndrome $2 eng 450 $w v $a Labhartov-Williho syndróm $2 slo 450 $w v $a Labhart-Willi syndróm $2 slo 450 $w v $a Royerov syndróm $2 slo 450 $w v $a HHHO (hypotonia, hypomentia, hypogonadizmus, obesitas) $2 slo 450 $w v $a Prader-Willi syndróm $2 slo 550 $7 sllk_us_auth*d008607 $Y Intellectual Disability $w p $a postihnutie intelektuálne 665 $a 1977 $2 eng 665 $a Abnormalities, Multiple (1968-1976) $2 eng 665 $a Carbohydrate Metabolism, Inborn Errors (1969-1976) $2 eng 665 $a Hypogonadism (1966-1976) $2 eng 665 $a Mental Retardation (1966-1976) $2 eng 665 $a Obesity (1966-1976) $2 eng 680 9-
$i 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) $2 eng 750 -2
$a Prader-Willi Syndrome $2 eng 980 $x M
Number of the records: 1