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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