Term Name: | neurodegeneration with brain iron accumulation 2a |
---|---|
Synonyms: | INAD1, Infantile Neuroaxonal Dystrophy 1, NBIA2a, Neurodegeneration, Pla2g6-Associated, Seitelberger Disease |
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. |
Ontology: | Human Disease [DOID:0110735] ( DOID:0110735 ) |