Number of the records: 1
Smithov-Lemliho-Opitzov syndróm
SYS d019082 LBL 00000cz--a2200000n--4500 005 20250606213203.8 008 950605|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C16.131.077.860 065 $a C16.320.565.398.850 065 $a C16.320.565.925.875 065 $a C18.452.584.500.937 065 $a C18.452.584.563.850 065 $a C18.452.648.398.850 065 $a C18.452.648.925.875 066 $a 01 $c 03 150 $a Smithov-Lemliho-Opitzov syndróm $x BL $x CF $x CI $x CL $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 665 $a 1996 $2 eng 665 $a Abnormalities, Multiple (1967-1995) $2 eng 680 9-
$i An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. $2 eng 750 -2
$a Smith-Lemli-Opitz Syndrome $2 eng 980 $x M
Number of the records: 1