Uniprot Description A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years.

Disease Ontology Description A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.