has material basis in germline mutation in
MKS1
Joubert syndrome 28
GARD:16195
JBTS28
Joubert syndrome caused by mutation in MKS1
MKS1 Joubert syndrome
MONDO:0014928
Joubert syndrome 28
Joubert syndrome type 28
DOID:0110997
OMIM:617121
UMLS:C4310705
Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.
Joubert syndrome with ocular defect
Joubert syndrome