Term Name: | Joubert syndrome 1 |
---|---|
Synonyms: | cerebellooculorenal syndrome 1, cerebelloparenchymal disorder IV, CORS1, CPD4, JBTS1 |
Definition: | A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. |
Ontology: | Human Disease [DOID:0110980] ( DOID:0110980 ) |