Bardet–Biedl syndrome

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A genetically heterogeneous disorder in which there are renal abnormalities, retinal dystrophy, polydactyly, mental retardation, and mild obesity. At least twelve variants of the syndrome are known, with deletions on various chromosomes. The affected proteins are known in some, but not all, cases and are all associated with the basal body and cilia of the cell; the mutations affect ciliary function.

Subjects: Medicine and Health.

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