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neurodegeneration with brain iron accumulation 2A; infantile neuroaxonal dystrophy; Seitelberger disease
Pathology:
- neurodegenerative disorder
- pathologic axonal swelling
- spheroid bodies in the central nervous system
- cerebellar atrophy
Genetics:
- associated with defects in PLA2G6
Clinical manifestations:
- onset is generally within the first 2 years of life
- mental retardation
- paralysis
- epilepsy
- death generally by age 10 years
General
neurodegeneration with brain iron accumulation
Database Correlations
OMIM 256600
References
OMIM :accession 256600