Term Name: | Joubert syndrome 25 |
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Synonyms: | JBTS25 |
Definition: | A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. |
Ontology: | Human Disease [DOID:0110994] ( DOID:0110994 ) |