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Disease Ontology Browser
Joubert syndrome 36 (DOID:0061338)
Alliance: disease page
Synonyms: JBTS36
Alt IDs: OMIM:618763, ORDO:475
Definition: A Joubert syndrome that is characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly and that has_material_basis_in homozygous mutation in the FAM149B1 gene on chromosome 10q22.2.

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
09/08/2026
MGI 6.24 		The Jackson Laboratory