Term Name: | Joubert syndrome 15 |
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Synonyms: | JBTS15 |
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. |
Ontology: | Human Disease [DOID:0110984] ( DOID:0110984 ) |