C118632Level 4
Bardet-Biedl Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills.
**Synonyms:** - BBS - Laurence-Moon Syndrome - Laurence-Moon-Bardet-Biedl Syndrome - Laurence-Moon-Biedl Syndrome
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