| Main clinical features
|
hydrocephalus and respiratory symptoms
motile ciliopathy that is characterized by hydrocephalus internus, chronic destructive airway disease, and randomization of left/right body asymmetry
recurrent infections of upper and lower airways, chronic productive cough, and bronchiectasis as well as chronic rhinitis and sinusitis
male infertility is a constant finding in FOXJ1-mutant males
cranial MRI studies demonstrated stenosis of the cerebral aqueduct and/or foramina Magendii and Luschka responsible for the obstructive hydrocephalus internus |