Of the six children with NPHP3 pathogenic mutations, five patients (5/6) with splice site mutations, truncation mutations, or frameshift mutations had liver involvement and rapidly progressed to kidney failure (mean age of reaching CKD stage 5: 4.3 years), while the patient (1/6) with only missense mutations had no extrarenal involvement and slow nephropathy progression (age of reaching CKD stage 5: 10.2 years). Here, NPHP3 is linked to Nephropathy.