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Joubert syndrome 32

Summary

Joubert syndrome-32 (JBTS32) is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017). For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). [from OMIM]

Available tests

20 tests are in the database for this condition.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCNS2, JBTS32, PRO1280, SUFUH, SUFUXL, SUFU
    Summary: SUFU negative regulator of hedgehog signaling

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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