Term Name: | Joubert syndrome 16 |
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Synonyms: | JBTS16 |
Definition: | A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. |
Ontology: | Human Disease [DOID:0110985] ( DOID:0110985 ) |