Neurodegeneration with Brain Iron Accumulation 2A

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PLA2G6 gene, encoding 85/88 kDa calcium-independent phospholipase A2. It is characterized by axonal swelling and spheroid bodies in the central nervous system. The onset is typically in the first two years of life.

**Synonyms:** - NBIA2A