ciliopathy
genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia
Meckel syndrome
a rare, lethal, ciliopathic, genetic disorder with malformations of the urinary system, of central nervous system, hepatic developmental defects, and pulmonary hypoplasia.
primary ciliary dyskinesia
ciliopathy with impaired function of the cilia lining the respiratory tract and fallopian tube
Joubert syndrome
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones