neurodegeneration with brain iron accumulation 2a (DOID:0110735)
Alliance: disease page
Synonyms: INAD1; Infantile Neuroaxonal Dystrophy 1; NBIA2a; Neurodegeneration, Pla2g6-Associated; Seitelberger Disease
Alt IDs: OMIM:256600, ICD10CM:G23.0
Definition: 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.