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neurodegeneration with brain iron accumulation 2a
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease neurodegeneration with brain iron accumulation
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009830 | Peripheral neuropathy |
| HP:0010545 | Downbeat nystagmus |
| HP:0011951 | Aspiration pneumonia |
| HP:0012043 | Pendular nystagmus |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0012675 | Iron accumulation in brain |
| HP:0012698 | Cerebellar gliosis |
| HP:0100710 | Impulsivity |
| HP:0002180 | Neurodegeneration |
| HP:0002529 | Neuronal loss in central nervous system |
