has material basis in germline mutation in KIAA0586 Joubert syndrome 23 https://www.malacards.org/card/joubert_syndrome_23 MEDGEN:900119 DOID:0110992 Joubert syndrome caused by mutation in KIAA0586 UMLS:C4084822 Joubert syndrome type 23 GARD:0016124 Joubert syndrome 23 MONDO:0014664 KIAA0586 Joubert syndrome Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene. JBTS23 OMIM:616490 Joubert syndrome