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Summary Literature (0)
DOID:0110986 - Joubert syndrome 17

Disease Ontology Definition:A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.

Synonyms: JBTS17

Echinobase Genes : cplane1

OMIM:614615 - joubert syndrome 17; jbts17

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Joubert syndrome (is_a)