Joubert syndrome 15 Disease Ontology Browser

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Joubert syndrome 15 (DOID:0110984)
Alliance: disease page
Synonyms: JBTS15
Alt IDs: OMIM:614464
Definition: A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32.

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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