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Echinobase
Summary Literature (0)
DOID:0110984 - Joubert syndrome 15


Disease Ontology 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.

Synonyms: JBTS15

Echinobase Genes : cep41


OMIM:
OMIM:614464 - joubert syndrome 15; jbts15 joubert syndrome 9/15, digenic, included;; joubert syndrome 12/15, digenic, included

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)