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Joubert syndrome 5

Disease Summary
Associated Targets (1)


Mondo Description Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.
Uniprot Description 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. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.
Disease Ontology Description A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.
Mondo Term and Equivalent IDs
MONDO:0012432:  Joubert syndrome 5