Bardet-biedl syndrome 4

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.

Disease Alternative Name

laurence-moon-biedl syndrome
bardet-biedl syndrome
laurence-moon syndrome
laurence-moon-bardet-biedl syndrome

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