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| Term | Joubert syndrome 14 | ID (Ontology) | DOID:0110983 (Human Disease) |
| Definition | A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. | ||
| Also Known As | "JBTS14" | ||
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ciliopathy_____ brain disease__| Joubert syndrome |__Joubert syndrome 14 |
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| Is a | Joubert syndrome | ||
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| MIM:614424 | |||