Number of the records: 1
Noonanovej syndróm
SYS d009634 LBL 00000cz--a2200000n--4500 005 20250606213930.1 008 921205|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C05.660.207.690 065 $a C14.240.400.787 065 $a C14.280.400.787 065 $a C16.131.240.400.784 065 $a C16.131.621.207.690 065 $a C17.300.690 066 $a 01 $c 03 150 $a Noonanovej 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 Male Turner Syndrome $2 eng 450 $w v $a Turner Syndrome, Male $2 eng 450 $w v $a Turnerov syndróm mužský $2 slo 450 $w v $a Turnerov syndróm u mužov $2 slo 550 $7 sllk_us_auth*d009456 $Y Neurofibromatosis 1 $w b $a neurofibromatóza 1 550 $7 sllk_us_auth*d009456 $Y Neurofibromatosis 1 $w p $a neurofibromatóza 1 550 $7 sllk_us_auth*d014424 $Y Turner Syndrome $w p $a Turnerov syndróm 550 $7 sllk_us_auth*d044542 $Y LEOPARD Syndrome $w p $a LEOPARD-syndróm 550 $7 sllk_us_auth*d056685 $Y Costello Syndrome $w p $a Costellov syndróm 550 $7 sllk_us_auth*d014424 $Y Turner Syndrome $w b $a Turnerov syndróm 550 $7 sllk_us_auth*d044542 $Y LEOPARD Syndrome $w b $a LEOPARD-syndróm 550 $7 sllk_us_auth*d056685 $Y Costello Syndrome $w b $a Costellov syndróm 665 $a 1979 $2 eng 665 $a Turner's Syndrome (1966-1978) $2 eng 680 9-
$i A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. $2 eng 750 -2
$a Noonan Syndrome $2 eng 980 $x M
Number of the records: 1