has material basis in germline mutation in
KIAA0586
Joubert syndrome 23
Joubert syndrome type 23
DOID:0110992
Joubert syndrome 23
GARD:16124
MONDO:0014664
Joubert syndrome caused by mutation in KIAA0586
KIAA0586 Joubert syndrome
Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.
JBTS23
OMIM:616490
UMLS:C4084822
Joubert syndrome