Table 1

Key clinical features for ciliopathy syndromes associated with the nine selected ciliopathy genes of interest

SystemCiliopathy syndromeBBSALMSJATDOFD-1NephronophthisisJBTSMKSLCA/EOSRD
Reference(s) 40 30 41 13 39 42 43 44 45
Chosen ciliopathy gene(s) associated with syndrome BBS1, BBS10, TMEM67, CEP290 ALMS1 DYNC2H1, WDR34 OFD1 NPHP1 (isolated+syndromic), TMEM67+CEP290 (syndromic) TMEM67, CEP290, NPHP1, OFD1 TMEM67, CEP290 CEP290
OphthalmicRetinal dystrophy M M M m*†‡ m*†‡ M
Abnormality of eye movement m*†‡ M M
Lens opacities M
Keratoconus M
GastrointestinalAbnormality of the liver m M m m*†‡ m*†‡ M
Abnormality of the gut m m
RenalAbnormal renal morphology/dysfunction M M M M M m*† M
GenitourinaryAbnormality of the genitourinary system M m m
CardiovascularCardiomyopathy M
Laterality defect m m*† m*† m
Congenital heart disease m m m
Hypertension m
SensorySNHL m M
Glue ear m
Chronic otitis media m m
Abnormality of the sense of smell M
Endocrine/MetabolicHypogonadotrophic hypogonadism M M
Glucose intolerance M
Obesity M M
Hypertriglyceridemia M
Thyroid abnormality m m m
Polycystic ovarian syndrome m m
NeurologicalIntellectual disability M m M m*† M
Neurodevelopmental delay M m M
Hypotonia m M
Ataxia m M
Abnormality of brain morphology m M m*† M M
Seizures m
Unusual sleep patterns m
SkeletalPolydactyly M m M m M
Short stature M
Narrow chest M
Brachydactyly M M
Micromelia M M m
Leg cramps M
Facial/OralDental abnormalities M
Abnormal oral morphology M M m m
Dysmorphic facial features M
RespiratoryAbnormal pattern of respiration M
Chronic airway infection m
Asthma m
Pulmonary hypoplasia m
Cystic lung m
  • Key features are grouped into 11 body systems. Clinical features marked ‘M’ are major features (present in >50% and/or listed as major diagnostic or characteristic feature in the literature cited). Features marked with ‘m’ are minor features (present in <50% and/or listed as a minor diagnostic feature in the literature cited).

  • *Feature of NPHP1-associated JBTS-plus syndrome (Senior-Loken syndrome).

  • †Feature of CEP290-associated JBTS-plus syndrome (Senior-Loken syndrome, Joubert syndrome with retinal disease, Joubert syndrome with renal disease, COACH syndrome).

  • ‡Feature of TMEM67-associated JBTS-plus syndrome (COACH syndrome).

  • ALMS, Alström syndrome; BBS, Bardet-Biedl syndrome; COACH syndrome, Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Coloboma and Hepatic fibrosis; EOSRD, early-onset severe retinal dystrophy; JATD, Jeune asphyxiating thoracic dystrophy; JBTS, Joubert syndrome; LCA, Leber congenital amaurosis; m, minor clinical feature; M, major clinical feature; MKS, Meckel-Gruber syndrome; OFD-1, orofaciodigital syndrome 1; SNHL, sensorineural hearing loss.