TABLE.

Genes and clinical symptoms associated with selected primary ciliopathies

Disease or syndrome	Clinical features	Associated genes
Alstrom syndrome	Obesity, retinitis pigmentosa, diabetes mellitus, hypothyroidism, hypogonadism, skeletal dysplasia, cardiomyopathy, pulmonary fibrosis	ALMS11
Bardet-Biedl syndrome	Obesity, polydactyly, developmental delay, retinitis pigmentosa, renal anomalies, anosmia, hypogonadism, congenital heart disease	ARL6, BBS1–12, CEP290, MKKS, MKS1, MKS3, SDCCAG8, TRIM32, WDPCP
Ellis van Creveld syndrome	Chondrodystrophy, polydactyly, ectodermal dysplasia, congenital heart disease	EVC, EVC2
Jeune syndrome	Thoracic cage deformities, renal cysts, retinitis pigmentosa, skeletal dysplasia, polydactyly	DYNC2H1, IFT80, IFT139, IFT140, IFT144, WDR35
Joubert syndrome	CNS anomalies, developmental delay, ataxia, retinitis pigmentosa, polydactyly, cleft lip, cleft palate	ATXN10, AHI1, ARL13B, C5ORF42, CC2D2A, CEP41, CEP290, CORS2, INPP5E, JBTS1, JBTS3, JBTS4, KIF7, NPHP1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TMEM67, TMEM138, TMEM216, TMEM237
Meckel-Gruber syndrome	Renal cysts, polydactyly, developmental delay, CNS anomalies, congenital heart disease, cleft lip, cleft palate	B9D1, B9D2, CC2D2A, CEP290, MKS1–6, MKKS, NPHP3, RPGRIP1L, TCTN2, TMEM67, TMEM216
Nephronophthisis	Renal cysts, interstitial nephritis, hepatic fibrosis, retinitis pigmentosa	ALMS1, ATXN10, CEP290, GLIS2, IFT139, INVS, NEK8, NPHP1–11, TCTN2, TTC21B, TTC8, WDR19, XPNPEP3
Orofaciodigital syndrome type 1	Polydactyly, syndactyly, cleft lip, cleft palate, brain anomalies, developmental delay, renal cysts	OFD1
Polycystic kidney disease	Early onset renal cysts, hepatic fibrosis	PKHD1