| Alström syndrome [58] |
ALMS1 |
Basal body |
Truncal Obesity, T2D, Insulin resistance, hepatic dysfunction, hyperlipidemia, hypothyroidism, hypogonadism, short stature, wide feet, retinal degeneration, hearing loss, mental retardation |
| Bardet-Biedl syndrome [71,93] |
BBS1-20 |
Axoneme, Basal body |
Obesity, T2D, hypertension, hyperlipidemia, polydactyly, male hypogonadism, retinal dystrophy, renal dysfunction, learning disabilities, cognitive impairment, fatty liver |
| Autosomal dominant polycystic kidney disease [94,95] |
PKD1 |
Axoneme |
Renal cyst formation, loss of renal function, abnormalities in cardiovascular, portal, pancreatic and gastrointestinal systems |
| Nephronophthisis [96] |
NPHP1-9 |
Basal body Transition zone, Axoneme |
Kidney cyst, tubulointerstitial nephropathy, retinal degeneration, liver fibrosis, cerebellar hypoplasia, situs inversus, and mental retardation |
| Meckel-Gruber syndrome [97] |
MKS1, TMEM216, TMEM67, TMEM231 TMEM138, TMEM237, CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1 B9D2, EVC2, C5orf42, SEC8 |
Basal body, Transition zone, Ciliary membrane |
Lethal, cystic renal disease, central nervous system malformation, occipital encephalocele, polydactyly, hepatic fibrosis, polydactyly, situs inversus, skeletal defects |
| Joubert syndrome [98] |
CEP290, CEP120, CEP41, INPP5E, ARL13B, CC2D2A, RPGRIP1L, TMEM216, TMEM67, TMEM237, TMEM231, TMEM138, NPHP1, AHI1, CXORF5, OFD1, TTC21B, KIF7, TCTN1, TCTN3 C5ORF42, ZNF423, CSPP1, ARMC9, FAM149B1 |
Basal body, Transition zone |
Cerebellum and midbrain abnormalities: molar tooth sign, hypotonia, psychomotor delay, irregular breathing pattern and oculomotor apraxia. developmental delay, truncal ataxia, speech apraxia, polydactyly, chorio-retinal colobomas, retinal degeneration, congenital hepatic fibrosis, fibrocystic kidney disease, cleft palate |
| Senior-Loken syndrome [99] |
SDCCAG8, NPHP4, NPHP5, NPHP6, WDR19, TRAF3IP1 |
Basal body Transition zone, Axoneme |
renal nephronophthisis, retinal degeneration, retinitis pigmentosa |
| Oral-facial-digital syndrome (OFD) [100] |
OFD1-15, two unclassified |
Basal body Transition zone, Axoneme |
abnormalities of the face, oral cavity and digits, pancreatic, renal, hepatic, ovarian cysts, cognitive defects |
| Leber congenital amaurosis and Early-onset severe retinal dystrophy [101] |
GUCY2D, RPE65, SPATA7, AIPL1, LCA5, RPGRIP1, CRX, CRB1, NMNAT1, CEP290, IMPDH1, RD3, RDH12, LRAT, TULP1, KCNJ13, GDF6, OTX2, CABP4, CLUAP1, IQCB1, DTHD1, IFT140, ALMS1, PRPH2 |
Basal body, Transition Zone, Axoneme |
early infantile onset rod–cone dystrophies, retinal dystrophy |
| Jeune syndrome [102] |
TCTEX1D2, DYNC2H1, WDR34, WDR60, IFT80, IFT172, IFT144, IFT139, IFT140, CEP120, CSPP1 |
Basal body, Axoneme |
multiple skeleto-muscular abnormalities, narrow thorax, shortened ribs, variable limb shortening, brachydactyly, polydactyly, renal dysfunction, hepatic dysfunction, retinal dystrophy |
