Human genes for Joubert syndrome
Joubert syndrome [DOID:0050777]
A ciliopathy that 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.
Synonyms: Joubert syndrome, DOID:0050777, Joubert disease, Joubert disorder, Joubert syndromes ...
Linkouts: OMIM