Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
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Inheritance patterns describe how genetic conditions are passed from parents to children.
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bardet-Biedl syndrome 8
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AI-curated news mentioning Bardet-Biedl syndrome 8
Updated Feb 9, 2026
A novel protein truncating mutation in the TTC8 gene has been identified as the cause of Bardet-Biedl Syndrome in a Pakistani family. This discovery adds to the understanding of genetic factors contributing to BBS.