Diagnostic and Treatment Unit for Congenital Metabolic Diseases (Hopital Clínico Universitario de Santiago de Compostela (CHUS))
General information
Diagnostic and Treatment Unit for Congenital Metabolic Diseases
Hopital Clínico Universitario de Santiago de Compostela (CHUS)
Choupana S/N
Santiago de Compostela
Galicia
Spain - 15706
https://udytemc.org/nosotros/
Organization ID: 508568
Hopital Clínico Universitario de Santiago de Compostela (CHUS)
Choupana S/N
Santiago de Compostela
Galicia
Spain - 15706
https://udytemc.org/nosotros/
Organization ID: 508568
Personnel
- MARIA VAZQUEZ MOSQUERA, Staff
Phone: 34 981955697
Email: maria.eugenia.vazquez.mosquera@sergas.es
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 | Jun 1, 2022 |
| Developmental and epileptic encephalopathy, 68 | 2 | Jun 1, 2022 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 2 | Aug 31, 2022 |
| MIRAGE syndrome | 1 | Jun 7, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 2 | Aug 31, 2022 |
| Seizures, benign familial neonatal, 1 | 1 | Jun 7, 2022 |
| Sengers syndrome | 1 | Aug 31, 2022 |
| Sulfite oxidase deficiency | 1 | Jun 1, 2022 |