Spanish Undiagnosed Rare Disease Program-IIER (Instituto de Salud Carlos III), SpainUDP
General information
Spanish Undiagnosed Rare Disease Program-IIER, SpainUDP
Instituto de Salud Carlos III
Ctra. Majadahonda-Pozuelo Km 2,200
Madrid
Madrid
Spain - 28220
https://spainudp.isciii.es/
Organization ID: 508610
Instituto de Salud Carlos III
Ctra. Majadahonda-Pozuelo Km 2,200
Madrid
Madrid
Spain - 28220
https://spainudp.isciii.es/
Organization ID: 508610
Personnel
- Beatriz Baladrón, Staff
Phone: +34918224315
Email: bbaladron@isciii.es - Maria Jose Barrero, Staff
Phone: 34918223658
Email: mj.barrero@isciii.es - Gema Gomez Mariano, Staff
Phone: +34918223101
Email: ggomezm@isciii.es - Lidia Lopez-Jimenez, Staff
Phone: 34918228220
Email: lidia.lopez@isciii.es - Estrella López-Martín, Coordinator
Phone: 34918222911
Email: elopez@isciii.es - Beatriz Martinez-Delgado, Lab Associate Director
Phone: +34918223152
Email: bmartinezd@isciii.es - Lidia M Mielu, Staff
Phone: +34918224315
Email: l.mirela@isciii.es - Manuel Posada, Principal Investigator
Phone: 34918222044
Email: mposada@isciii.es
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| DOHH related neurodevelopmental disorder | 1 | Aug 17, 2022 |
| Intellectual disability, X-linked 1 | 1 | Jul 30, 2024 |
| Kleefstra-like syndrome | 1 | Jan 19, 2024 |