has material basis in germline mutation in C19orf12 neurodegeneration with brain iron accumulation 4 https://www.malacards.org/card/mitochondrial_membrane_protein_associated_neurodegeneration https://www.malacards.org/card/neurodegeneration_with_brain_iron_accumulation_4 neurodegeneration with brain iron accumulation caused by mutation in C19orf12 MEDGEN:482001 NBIA4 MONDO:0013674 NANDO:1200540 neurodegeneration with brain iron accumulation type 4 NBIA due to C19orf12 mutation UMLS:C3280371 Orphanet:289560 DOID:0110738 NCIT:C175707 Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities. C19orf12 neurodegeneration with brain iron accumulation OMIM:614298 mitochondrial Protein-associated neurodegeneration SCTID:709415008 neurodegeneration with brain iron accumulation 4 MPAN neurodegeneration with brain iron accumulation due to C19orf12 mutation ICD9:333.0 GARD:0012569 neurodegeneration with brain iron accumulation