Closed
Targeted syndrom under study
MYO18A
Abstract
We have identified a small series of individuals with de novo or inherited likely pathogenic heterozygous MYO18A variants. The phenotype is intellectual disability with epilepsy in some. We would like to identify further individuals to confirm or refute this as a potential novel neurodevelopmental disorder.
Coordinating clinicians/researchers
Alisdair McNeill – a.mcneill@sheffield.ac.uk
Institution
University of Sheffield, United Kingdom
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: Yes (possible functional testing of variants )