English
Genetic of Intellectual Disability and Autism Spectrum Disorders
Accelerate knowledge about genetic forms of intellectual disability, autism and epilepsy by increasing participation:
- of people with autism, their families and the concerned associations.
- doctors, researchers and other professionals involved in the management of the disease
Help us help you
1. For who?
One of your children, brothers, sisters or close relatives has been detected as having an intellectual disability (ID) and/or autism spectrum disorder (ASD) with a diagnosed genetic origin or You are at identified risk of a pathology such as Faxtas or Valproate effect.
2. Why?
You wish to help to better know and understand the rare disease that concerns you in order to better treat it.
3. How?
You are willing to provide and update medical information about the affected person(s), data that will be anonymized.
2188 users + 265 professionals
269 active users
(>20% answers)
716
recorded genes
150
genetic defects
| TOP 5 | |
| EHMT1 (Kleefstra syndrome) | 13 |
| KANSL1 (KdV syndrome) | 12 |
| DDX3X | 7 |
| ANKRD11 (KBG syndrome) | 4 |
| BRAF (Noonan or CFC syndromes) | 4 |
| TOP 5 | |
| 17q21.31 deletion (KdV syndrome) | 109 |
| Xq28 dup. (MECP2 dup. syndrome) | 25 |
| 9q34.3 deletion (Kleefstra syndrome) | 16 |
| délétion 22q11 ou microdélétion 22q11.2 (DiGeorge syndrome) | 6 |
| 17p13.3 triplication | 1 |
Participants' countries of origin
(This chart only takes in account relatives for which we have at least 10 answers)
Cohorts Overview
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