Disease association ontology term - MONDO:0014290 - neurodegeneration with brain iron accumulation 6
Term summary
- ID
- MONDO:0014290
- Name
- neurodegeneration with brain iron accumulation 6
- Ontology or CV name
- Disease association
- Definition
- COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.
