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Joubert syndrome 37

Summary

Joubert syndrome-37 (JBTS37) is an autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Affected individuals have hypotonia, ataxia, and variably impaired intellectual development. Additional variable features, such as postaxial polydactyly, liver or kidney anomalies, retinal dystrophy, and coloboma, may also occur. In severe cases, affected fetuses with these malformations may be terminated (summary by Latour et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FAM179B, JBTS37, KIAA0423, TOGARAM1
    Summary: TOG array regulator of axonemal microtubules 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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