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MIRAGE
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Summary
- Synonym
-
- CONDSIAS
- Definition
- A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy.
- Super Class
- autosomal recessive disease neurodegenerative disease
External Links
- Disease Ontology
- DOID:0070352
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NX46 | ADP-ribosylhydrolase ARH3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001272 | Cerebellar atrophy |
| HP:0000252 | Microcephaly |
| HP:0000639 | Nystagmus |
| HP:0000486 | Strabismus |
| HP:0001250 | Seizure |
| HP:0001260 | Dysarthria |
| HP:0003487 | Babinski sign |
| HP:0000651 | Diplopia |
| HP:0002059 | Cerebral atrophy |
| HP:0006855 | Cerebellar vermis atrophy |
