Joubert syndrome 24

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Summary

Literature (0)

DOID:0110993 - Joubert syndrome 24

Disease Ontology Definition:A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24.

Synonyms: JBTS24,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tctn2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014724 - Joubert syndrome 24

MONDO:0014724 - Joubert syndrome 24

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)