Joubert syndrome 15

Summary

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

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

: cep41

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013763 - Joubert syndrome 15

MONDO:0013763 - Joubert syndrome 15

MIM:

MIM:614464 - JOUBERT SYNDROME 15; JBTS15

MIM:614464 - JOUBERT SYNDROME 15; JBTS15

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)