Table 1.

Different Cilia Associated Phenotypes and Examples of Ciliopathies

	PKD	NPHP	SLSN	EVC	JAth	OFD	ALMS	JS	BBS	MKS
Cystic kidney	√	√	√		√	√	√	√	√	√
CNS malformations				√	√	√	√	√	√	√
Retinal degeneration			√		√		√	√	√
Situs defects		√	√		√			√	√	√
Polydactyly				√	√	√		√	√	√
Gonadal malformations				√					√	√
Heart disease				√			√		√
Mental retardation				√	√	√		√	√	√
Obesity							√		√
Diabetes							√		√
Skeletal defects				√	√	√

PKD: Polycystic kidney disease; NPHP: nephronophthisis (OMIM 256100); SLSN: Senior-Løken Syndrome (OMIM 266900); EVC: Ellis van Creveld (OMIM 225500); JATD: Jeune asphyxiating thoracic dystrophy (OMIM 208500); OFD: Orofaciodigital syndrome; ALMS: Alström syndrome (OMIM 203800); JS: Joubert Syndrome/Cerebello-oculo-renal syndrome (OMIM 213300); BBS: Bardet-Biedl syndrome; MKS: Meckel-Gruber syndrome; CNS: Central nervous system.