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Disease Ontology Browser
Joubert syndrome 38 (DOID:0061341)
Alliance: disease page
Synonyms: JBTS38
Alt IDs: OMIM:619476, ORDO:475
Definition: A Joubert syndrome that is characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI and that has_material_basis_in compound heterozygous mutation in the KIAA0753 gene on chromosome 17p13.1.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/08/2026
MGI 6.24 		The Jackson Laboratory