Syntelencephaly cohort

Targeted gene(s)/phenotype under study : Syntelencephaly

Abstract :

We are currently collecting clinical and brain MRI data of patients with syntelencephaly, the aim is to provide novel insight into the correlation of the brain MRI with the neurological symptoms, neurodevelopment and genotype-phenotype correlations. As syntelencephaly is a very rare form of holoprosencephaly.

Coordinating clinician/researcher: Dr. Alinoë Lavillaureix

Institution :

Department of Clinical Genetics,

CHU Rennes,

France

Contact : Alinoe.lavillaureix@chu-rennes.fr

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples : N
  • Resampling of patients : N
  • Linked to a translational/basic research project?