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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:0012760 | Reduced social reciprocity |
| HP:0002007 | Frontal bossing |
| HP:0000347 | Micrognathia |
| HP:0002062 | Abnormal pyramidal tract morphology |
| HP:0003324 | Generalized muscle weakness |
| HP:0001252 | Hypotonia |
| HP:0011463 | Childhood onset |
| HP:0001290 | Generalized hypotonia |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0000007 | Autosomal recessive inheritance |
