Number of the records: 1  

Bardetov-Biedlov syndróm

  1. Record numberd020788
    Date06.06.2025
    TypeM
    Topical termBardetov-Biedlov syndróm
    Other termEnglish (Pseudonym) Laurence-Moon-Bardet-Biedl Syndrome
    Slovak (Pseudonym) Laurenceov-Moonov-Bardetov-Biedlov syndróm
    Slovak (Pseudonym) Lawrenceov-Moonov-Biedlov-Bardetov syndróm
    Slovak (Pseudonym) BBS
    See also(Skutočné meno) postihnutie intelektuálne
    UDCC10.228.140.617.200C11.270.684.624C16.131.077.245.125C16.320.184.125
    NoteAn autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
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Number of the records: 1  

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