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

: cep41

OMIM:

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: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

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

Parent(s): Joubert syndrome (is_a)