Few individuals with mutations in SMARCB1 and Intellectual Developmental Disorders are reposted in the medical literature and clinical genetics databases. Therefore, details about the clinical features and natural history are lacking, and disease-specific management and intervention is limited.
Detailed and longitudinal characterisation of patients will aid the prediction of likely outcomes and inform disease management. The overall aims of our research are:
- Identification of individuals with mutations in SMARCB1 and Intellectual Developmental Disorders
- Characterisation of the clinical spectrum
- Determination of the natural history of the disease through collection of longitudinal data
- Performance of genotype-phenotype correlation analysis for potential mutation-based patient stratification
- Delineation of surveillance guidelines for individuals with SMARCB1– associated Intellectual Developmental Disorders
We invite collaborations through the submission of clinical and genetic information, which can be uploaded directly onto this website’s database. We appreciate clinical photographs and brain MRI images if available.
Instructions for the clinician involved:
- Please request written consent for the use and storage of medical information with or without photographs.
- Enter the clinical information using the submission interface.
- E-mail photographs cristina.dias@crick.ac.uk *
- Post or e-mail the consent form and/or MRI images to the contact below.*
Any additional questions or enquiries should be directed to:
Cristina Dias, MD, PhD.
The Francis Crick Institute
1 Midland Road
NW1 1AT, London,
E-mail: cristina.dias@crick.ac.uk
Tel: +44 (0) )2037962922
*Please use email encryption if available.