Joubert syndrome 15

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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 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

: cep41

MIM:

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

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): digenic disease (is_a), Joubert syndrome (is_a)