Number of the records: 1  

Smithov-Lemliho-Opitzov syndróm

  1. Record numberd019082
    Date06.06.2025
    TypeM
    Topical termSmithov-Lemliho-Opitzov syndróm
    UDCC16.131.077.860C16.320.565.398.850C16.320.565.925.875C18.452.584.500.937C18.452.584.563.850C18.452.648.398.850C18.452.648.925.875
    NoteAn 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.
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Number of the records: 1  

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