Table 1

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

System	Ciliopathy syndrome	BBS	ALMS	JATD	OFD-1	Nephronophthisis	JBTS	MKS	LCA/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
Ophthalmic	Retinal dystrophy	M	M	M		*m†‡**	*m†‡**		M
	Abnormality of eye movement					*m†‡**	M		M
	Lens opacities								M
	Keratoconus								M
Gastrointestinal	Abnormality of the liver		m	M	m	*m†‡**	*m†‡**	M
Gastrointestinal	Abnormality of the gut	m		m
Renal	Abnormal renal morphology/dysfunction	M	M	M	M	M	*m†**	M
Genitourinary	Abnormality of the genitourinary system	M	m					m
Cardiovascular	Cardiomyopathy		M
	Laterality defect	m				*m†**	*m†**	m
	Congenital heart disease	m		m				m
	Hypertension		m
Sensory	SNHL	m	M
	Glue ear		m
	Chronic otitis media		m		m
	Abnormality of the sense of smell	M
Endocrine/Metabolic	Hypogonadotrophic hypogonadism	M	M
	Glucose intolerance		M
	Obesity	M	M
	Hypertriglyceridemia		M
	Thyroid abnormality	m	m					m
	Polycystic ovarian syndrome	m			m
Neurological	Intellectual 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
Skeletal	Polydactyly	M		m	M		m	M
	Short stature			M
	Narrow chest			M
	Brachydactyly			M	M
	Micromelia			M	M			m
	Leg cramps		M
Facial/Oral	Dental abnormalities	M
	Abnormal oral morphology	M			M		m	m
	Dysmorphic facial features				M
Respiratory	Abnormal 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.