. Author manuscript; available in PMC: 2010 Oct 13.

Published in final edited form as: Neurobiol Dis. 2010 Jan 22;38(2):167–172. doi: 10.1016/j.nbd.2009.12.022

Table 1.

Clinical features of the ciliopathies.

Ciliopathies	Neurological deficits	Other deficits
Joubert syndrome (JBTS)	cognitive impairment cerebellar malformation oculomotor apraxia encephalocele polymicrogyria	cystic kidney polydactyly retinal degeneration
Bardet-Biedl syndrome (BBS)	cognitive impairment obesity	retinal degeneration cystic kidneys polydactyly
Meckel syndrome (MKS)	cognitive impairment encephalocele hydrocephalous	cystic kidney polydactyly
Ellis Van Creveld syndrome (EVC)	cognitive impairment	short statue polydactyly cardiac defects
Oro-facial-digital syndrome type 1 (OFD1)	cognitive impairment cerebellar malformation	malformation of the face and oral cavity
Jeune syndrome (JATD)	cognitive impairment	skeletal dysplasia cystic kidneys