Table 1. .

Phenotypic Characteristics of the Patient Cohort

	Findings for Patient
Characteristic	F76.V-4a	F76.V-1	F75.II-1	F48.II-1	F68.II-1	F49.II-3	F51-II-1	F50.II-1	F67.II-1	F52.II-2	F90.IV-2	F90.IV-3
Ethnic Origin	Swiss	Swiss	Spanish	Spanish	Hispanic	Spanish	Spanish	Spanish	Hispanic	Spanish	Turkish	Turkish
Sex	M	F	M	M	F	F	M	M	M	M	F	M
Age (in years) at symptoms onset	0.8	6.0	3.0	3.6	0.5	7.7	0.2	0.8	0.1	0.8	0.9	0.2
Present age (in years)	39	36	49	26	3.0	18	10	21	14	10	2.5	1.0
Renal phenotypeb:
Nephrolithiasis	Yes	Yes	Yes	No	No	No	No	No	No	Yes	No	Yes
Urinary tract infections	Yes	Yes	No	No	Yes	Yes	Yes	No	No	Yes	Yes	Yes
Actual renal functionc	TPL	TPL	CRF	CRF	Normal	CRF	CRF	CRF	TPL	TPL	Normal	Normal
Ocular phenotype:
Macular colobomata	Yes	Yes	No	Yes	No	No	No	Yes	Unknown	No	Yes	Unknown
Nystagmus	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Unknown	Yes	Yes	Yes
Myopia	Yes	Yes	Yes	Yes	Yes	Yes	Nod	Yes	Yes	No	Yes	Yes

^aDeceased.

^bAll patients are or were affected with hypomagnesemia, hypercalciuria, and nephrocalcinosis.

^cTPL indicates that the patient underwent kidney transplantation; CRF indicates that the patient experienced chronic renal failure.

^dUnconfirmed.