neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.
MONDO:0002279
iron metabolism disease
is_a
MONDO:0002283
neuroaxonal dystrophy
is_a
MONDO:0005395
movement disorder
is_a
MONDO:0015547
hereditary dementia
is_a
MONDO:0019052
inborn errors of metabolism
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
NBIA
exact
neurodegeneration with brain iron accumulation
exact
SPAC1F12.08 SPCC1672.11c SPAC458.06 SPAC29A4.19c