Targeted gene/syndrome under study
Tonne-Kalscheuer syndrome (OMIM # 300978)
Tonne–Kalscheuer syndrome (TOKAS) is an X-linked intellectual disability syndrome, caused by variations in the E3 ubiquitin ligase gene RLIM (RNF12), associated with variable clinical features including intellectual disability, abnormalities in sexual differentiation and diaphragmatic hernia.
The aim of this work is to publish a cohort of fetal forms of TOKAS in order to extend the phenotypic description of this syndrome, including clinical data, antenatal imaging, fetopathological or postnatal pictures.
Service de Génétique Clinique, CHU de Rennes, France
Specific requirements beyond clinical data and genotype data sharing:
Re-analysis of DNA samples: N
Resampling of patients: No
Linked to a translational/basic research project: No