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skos:definition |
JABL: A syndrome of mental retardation, retinitis pigmentosa, hypogonadism, and spastic paraplegia. Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients with Laurence and Moon had spastic paraplegia but no polydactyly and obesity which were the key elements in the Bardet and Biedl patients. Bardet-Biedl syndrome is a separate entity.,MSH: An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)
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