has material basis in germline mutation in
TMEM237
Joubert syndrome with oculorenal defect
Joubert syndrome 14
Joubert syndrome caused by mutation in TMEM237
UMLS:C3280766
MONDO:0013745
Joubert syndrome 14
JBTS14
OMIM:614424
TMEM237 Joubert syndrome
Orphanet:220497
GARD:15801
DOID:0110983
Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.
Joubert syndrome type 14
Joubert syndrome with ocular defect
Joubert syndrome