Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational
Official Title: Clinical and Molecular Investigations Into Ciliopathies
Brief Summary: This study will evaluate patients ciliopathies. People with ciliopathies develop fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the eyes, abnormal bone growth, abnormal sidedness of internal organs and polydactyly. The goal of the study is to better understand the medical complications of these disorders and identify characteristics that can help in the design of new treatments....