Gene under study
LMBRD2 [OMIM*619490]
Abstract
The LMBRD2 gene has been involved in neurodevelopmental disorders (PMID: 32820033). We wish to better define the associated phenotypic spectrum, especially the risk of spasticity.
To gather clinical and molecular data from patients with de novo variants in LMBRD2, with a particular focus on developmental trajectories and neurological signs.
If you are following a patient who meets these criteria and would like to take part in this collaborative study, please contact us. You can also refer them to the newly founded association https://lmbrd2.org/contact-us/
Coordinating clinician
Alban ZIEGLER – ziegler.a@chu-toulouse.fr
Institution
Toulouse Hospital, Toulouse, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No