Statistics
*The current information provided on this page was based on 234 entries covered by 42 articles.
*This page will be updated to include more categories. Additionally, this page will later be set-up to automatically modify the provided statistics as entries are added to the database, and it will be possible to generate custom statistics outputs.
Domain Distribution of Patient Mutations
Percentage of Patients with Reported Symptoms
| SYMPTOM | PERCENTAGE OF PATIENTS WITH REPORTED SYMPTOM |
| Cataracts | 85.5% |
| Hypotonia | 43.6% |
| Intellectual Disability / Mental Retardation | 41.8% |
| Renal Tubulopathy | 76.4% |
| Proteinuria | 58.2% |