PRTS_ARX
- Gene
- ARX
- Disease
- PRTS
- Inheritance
- XR
- Classification
- Definitive
- Total Score
- 12
- Publications Reviewed
- 2
- Publication Span
- 4.75 years
- Last Updated
- 8/18/2025
- Curator(s)
- Laurel Hiatt, Macayla Weiner
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.
Genetic evidence
Total: 12
| Singular Evidence | Probands | PMID:20506206 | 6 | 6 unrelated patients | ||
| Collective Evidence | Allele | PMID:20506206 | 1 | The severity of clinical presentation generally increases with the length of polyalanine tract expansion, a correlation seen in other polyalanine tract expansion disorders | ||
| Statistics | Case-control Data | PMID:26029707 | 6 | With increasing length of residues in the pA tracts, the clinical presentation becomes more severe, with early onset seizures being a frequent but not consistent finding. |
3 rows
Experimental evidence
Total: 0
No experimental evidence details available.