has material basis in germline mutation in disease has major feature NPHP1 Joubert syndrome with renal defect https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies https://www.malacards.org/card/joubert_syndrome_4 Joubert syndrome type 4 Joubert syndrome with renal anomalies SCTID:716999001 NCIT:C74997 UMLS:C1846790 MEDGEN:335526 DOID:0110999 MESH:C536296 Orphanet:220497 GARD:0010169 OMIM:609583 MONDO:0012308 A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. JS-R JBTS4 Joubert syndrome 4 icd11.foundation:1419767028 Joubert syndrome familial cystic renal disease central nervous system malformation