Počet záznamov: 1
Rettov syndróm
SYS d015518 LBL 00000nz--a2200000o--4500 005 20250606214747.3 008 920407|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.597.606.360.455.937 065 $a C16.320.322.500.937 065 $a C16.320.400.525.937 066 $a 01 $c 03 150 $a Rettov 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 Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome $2 eng 450 $w v $a Cerebroatrophic Hyperammonemia $2 eng 450 $w v $a syndróm autizmus-demencia-ataxia-strata cieleného používania rúk $2 slo 450 $w v $a hyperamoniémia cerebroatrofická $2 slo 550 $7 sllk_us_auth*d008607 $Y Intellectual Disability $w p $a postihnutie intelektuálne 550 $7 sllk_us_auth*d051783 $Y Methyl-CpG-Binding Protein 2 $w b $a metyl-CpG-viažuci proteín 2 665 $a 90 $2 eng 665 $a Mental Retardation (1983-1989) $2 eng 665 $a Movement Disorders (1986-1989) $2 eng 680 9-
$i An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) $2 eng 750 -2
$a Rett Syndrome $2 eng 980 $x M
Počet záznamov: 1