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Joubert syndrome 18

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.
Uniprot Description A 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 and renal disease. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint laxity, horseshoe kidney, and ventricular septal defect.
Mondo Term and Equivalent IDs
MONDO:0013896:  Joubert syndrome 18
UMLS:C3553758: