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Disease Ontology Browser
Joubert syndrome 23 (DOID:0110992)
Alliance: disease page
Synonyms: JBTS23
Alt IDs: OMIM:616490
Definition: A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23.

Contributing Projects:
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
12/10/2024
MGI 6.24 		The Jackson Laboratory