Metadata | |
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ID | DOID:0110735 |
Name | neurodegeneration with brain iron accumulation 2a |
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. https://www.ncbi.nlm.nih.gov/pubmed/18443314 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
INAD1 [EXACT] Infantile Neuroaxonal Dystrophy 1 [EXACT] NBIA2a [EXACT] Neurodegeneration, Pla2g6-Associated [EXACT] Seitelberger Disease [EXACT] |
Parent Relationships |