Table 1.

Clinical and Genetic Features of JS and Most Frequent CORSs, Showing the High Degree of Clinical Overlap among Syndromes^[Note]

Type and Specifics of Anomaly	JS Type A	JS Type B	Senior-Löken	COACHa	Arima	COGAN	Cerebello-Renalb
Neuroimaging:
Vermian hypoplasia/aplasia	+	+	+	+	+	(+)	+
MTI	+	+	+/?	+/?	+/?	?	+
Other CNS malformations	(+)	(+)	(+)	(+)	(+)	−	−
Brain:
Hypotonia	+	+	+	+	+	(+)	+
Psychomotor retardation	+	+	(+)	+	(+)	(+)	+
Ataxia	+	+	(+)	+	(+)	(+)	+
Oculomotor abnormalities	(+)	(+)	(+)	(+)	(+)	+	+
Episodic hyperpnea	(+)	(+)	(+)	(+)	(+)	−	−
Kidney:
Nephronophthisis	−	−	+	+	−	(+)	+
Cystic dysplastic kidney	−	(+)	−	−	+	−	−
Eye:
Leber amaurosis/other retinopathy	−	+/+	+/+	−	+/+	−	−
Chorio-retinal colobomas	(+)	(+)	−	+	(+)	−	−
Other:
Hepatic fibrosis	−	−	(+)	+	(+)	−	−
Other malformations	(+)	(+)	(+)	(+)	(+)	−	−
Genetics	JBTS1,other loci	JBTS1, CORS2, other loci	NPHP1-3-4,other loci	?	?	NPHP1,other loci	CORS2,other loci?

Note.— + = always present; (+) = not always present; − absent; ? = unknown; +/? = results of neuroradiological examination not described in some cases.

^aCOACH = cerebellar vermis hypoplasia/aplasia, oligophrenia, atiaxia congenita, coloboma ocular, and hepatic fibrosis.

^bPresent family.