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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:0002500 | Abnormal cerebral white matter morphology |
| HP:0003134 | Abnormality of peripheral nerve conduction |
| HP:0003405 | Diffuse axonal swelling |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0005949 | Apneic episodes in infancy |
| HP:0005968 | Temperature instability |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0008936 | Axial hypotonia |
