BARDET-BIEDL SYNDROME

Disorder characterized by loss of vision, obesity, the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia.

This syndrome can result from mutations in at least 14 different genes, which cause defects in the structure and function of cilia, disrupting important signaling pathways during development and lead to abnormalities of sensory perception.