has material basis in germline mutation in COASY neurodegeneration with brain iron accumulation 6 https://www.malacards.org/card/neurodegeneration_with_brain_iron_accumulation_6 COASY neurodegeneration with brain iron accumulation neurodegeneration with brain iron accumulation due to COASY mutation 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. SCTID:732264002 OMIM:615643 UMLS:C4517377 MONDO:0014290 neurodegeneration with brain iron accumulation caused by mutation in COASY Orphanet:397725 DOID:0110740 neurodegeneration with brain iron accumulation 6 MEDGEN:1387791 neurodegeneration with brain iron accumulation type 6 NBIA6 CoPAN GARD:0012571 neurodegeneration with brain iron accumulation