Imagine Institut (INSERM/Strasbourg University)
General information
Imagine Institut
INSERM/Strasbourg University
http://www.institutimagine.org/fr/
Organization ID: 505590
INSERM/Strasbourg University
http://www.institutimagine.org/fr/
Organization ID: 505590
Personnel
- Agnes Rotig
Phone: 33(0)142754322
Email: agnes.rotig@inserm.fr - AGNES ROTIG, Lab Director
Phone: 33142754322
Email: agnes.rotig@inserm.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 15
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal facial shape | 2 | Sep 7, 2021 |
| Acyl-CoA dehydrogenase 9 deficiency | 8 | Aug 31, 2015 |
| Ankle flexion contracture | 2 | Sep 7, 2021 |
| Bilateral ptosis | 4 | Sep 7, 2021 |
| Dysphagia | 2 | Sep 7, 2021 |
| Gastroesophageal reflux | 2 | Sep 7, 2021 |
| Neonatal hypotonia | 2 | Sep 7, 2021 |
| Neurodegeneration with brain iron accumulation | 2 | Oct 9, 2018 |
| Neurodegeneration with brain iron accumulation 7 | 1 | Apr 25, 2018 |
| Proximal muscle weakness | 2 | Sep 7, 2021 |
| Respiratory failure | 2 | Sep 7, 2021 |