neurodegeneration with brain iron accumulation 4
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.
MONDO:0018307
neurodegeneration with brain iron accumulation
is_a
C19orf12 neurodegeneration with brain iron accumulation
exact
MPAN
exact
NBIA due to C19orf12 mutation
exact
NBIA4
exact
mitochondrial Protein-associated neurodegeneration
exact
neurodegeneration with brain iron accumulation 4
exact
neurodegeneration with brain iron accumulation caused by mutation in C19orf12
exact
neurodegeneration with brain iron accumulation due to C19orf12 mutation
exact
neurodegeneration with brain iron accumulation type 4
exact