has material basis in germline mutation in
CEP41
Joubert syndrome 15
OMIM:614464
GARD:15806
UMLS:C3280897
Joubert syndrome 12/15, digenic
DOID:0110984
Joubert syndrome 9/15, digenic
Joubert syndrome caused by mutation in CEP41
Joubert syndrome type 15
MONDO:0013763
Joubert syndrome 15
CEP41 Joubert syndrome
Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.
JBTS15
Joubert syndrome with ocular defect
Joubert syndrome