Počet záznamov: 1
Walkerov-Warburgov syndróm
SYS d058494 LBL 00000nx--j2200000---45-- 005 20240119201512.6 100 $a 20110101asloy0103----ba0 152 $b mesh 250 $a Walkerov-Warburgov 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 2011 $8 eng 300 1-
$a Cobblestone Lissencephaly (2007-2010) $8 eng 300 1-
$a Muscular Dystrophies/congenital (1979-2010) $8 eng 330 1-
$a Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development. $8 eng 450 $a Cerebromuscular Dystrophy, Fukuyama Type $5 e $8 eng 450 $a Chemke Syndrome $5 e $8 eng 450 $a Fukuyama Congenital Muscular Dystrophy $5 e $8 eng 450 $a Fukuyama Type Congenital Muscular Dystrophy $5 e $8 eng 450 $a Muscle-Eye-Brain Disease $5 e $8 eng 450 $a Muscular Dystrophy, Congenital, Fukuyama Type $5 e $8 eng 450 $a Warburg Syndrome $5 e $8 eng 450 $a alpha-Dystroglycanopathies $5 e $8 eng 450 $a alfa-dystroglykanopatie $5 e $8 slo 450 $a Fukuyamov typ cerebromuskulárnej dystrofie $5 e $8 slo 450 $a Chemkeho syndróm $5 e $8 slo 450 $a Fukuyamov typ kongenitálnej muskulárnej dystrofie $5 e $8 slo 450 $a Fukuyamov typ vrodenej svalovej dystrofie $5 e $8 slo 450 $a choroba s postihnutím svalov, očí a mozgu $5 e $8 slo 450 $a Warburgov syndróm $5 e $8 slo 550 $3 sllk_un_auth*d049030 $Y Dystroglycans $5 B $a dystroglykány 550 $3 sllk_un_auth*d049030 $Y Dystroglycans $5 F $a dystroglykány 686 $a C10.500.507.450.499.249.500 686 $a C11.270.881 686 $a C16.131.666.507.450.499.249.500 686 $a C16.320.577.750 750 $a Walker-Warburg Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20110127 801 -0
$a SK $b BA006 $c 20111003 980 $x M
Počet záznamov: 1