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Joubert syndrome 23

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.
Uniprot Description A mild form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly.
Mondo Term and Equivalent IDs
MONDO:0014664:  Joubert syndrome 23
UMLS:C4084822: