Clinical Genetics Service (Universitary Hospital 12 de Octubre)
General information
Personnel
- Juan F Quesada-Espinosa, Genetic Counselor
Phone: 0034917792753
Email: juanf.quesada@salud.madrid.org
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Allan-Herndon-Dudley syndrome | 1 | Apr 19, 2021 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | Nov 30, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 | Jul 22, 2021 |
| Microcephalic primordial dwarfism, Alazami type | 1 | Mar 28, 2022 |
| Neurodevelopmental disorder with involuntary movements | 1 | Jun 2, 2021 |