UF de génétique clinique (APHP Hôpital Armand Trousseau)
General information
Personnel
- Sandra Whalen, Staff
Phone: 01.71.73.87.40
Email: sandra.whalen@aphp.fr
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 3
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Creatine transporter deficiency | 2 | Dec 11, 2020 |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 3 | Dec 11, 2020 |