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neurodegeneration with brain iron accumulation 2b
Summary
- Synonym
-
- NBIA2b
- Neuroaxonal Dystrophy, Atypical
- Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
- 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.
- Super Class
- autosomal recessive disease neurodegeneration with brain iron accumulation
External Links
- Disease Ontology
- DOID:0110736
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60218 | Aldo-keto reductase family 1 member B10 | |
| Q6P1J6 | Phospholipase B1, membrane-associated |
- 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:0000007 | Autosomal recessive inheritance |
| HP:0001276 | Hypertonia |
