ciliopathy
ciliopathy
A family of conditions which have ciliary dysfunction in common.Clinical findings
Retinal degeneration, renal cystic disease, skeletal defects, fibrosis of various tissues, and a complex range of anatomical and functional defects of the central and peripheral nervous system.
Examples
Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis.
Genetics
Disease variation is best explained by variability in the ciliary proteome rather than by single defective genes.