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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:0002059 | Cerebral atrophy |
| HP:0000572 | Visual loss |
| HP:0003196 | Short nose |
| HP:0011220 | Prominent forehead |
| HP:0001284 | Areflexia |
| HP:0001263 | Global developmental delay |
| HP:0002171 | Gliosis |
| HP:0000365 | Hearing impairment |
| HP:0002510 | Spastic tetraplegia |
| HP:0001249 | Intellectual disability |
