has material basis in germline mutation in
RPGRIP1L
Joubert syndrome 7
MESH:C566916
Orphanet:220497
GARD:15519
NCIT:C159653
OMIM:611560
Joubert syndrome caused by mutation in RPGRIP1L
JBTS7
RPGRIP1L Joubert syndrome
Joubert syndrome 7
Joubert syndrome type 7
Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
MONDO:0012694
DOID:0111002
UMLS:C1969053
Joubert syndrome