Gender and year of birth
Male, 2012
Dex is now diagnosed!?
Dex received a diagnosis of TUBB-related condition (OMIM #191130) in 2022 through the SOLVE-RD Project. This was due to a de novo (new, not inherited) change in the TUBB gene. If you are interested in reading more about this SOLVE-RD project there is information here.
Description
Developmental delay, autism spectrum disorder
Symptoms / Signs
- Motor delay, speech and language delay, difficulties with motor tasks like swimming and jumping.
Current Treatments
- Speech therapy, physiotherapy, occupational therapy
Prior Treatments
- Hearing aid on the right side because of perforated right tympanic membrane
Considered treatments
- Not applicable
Previously Considered Diagnoses
- Disease of muscles and/or nervous system
Genetic Variants of Interest
- Trio exome sequencing negative, metabolic screen negative
Siblings, age & gender
Half brother 12
Sister 6
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
In the picture you can see me, D. I like to play with my brother and younger sister. I like to play video games, and as sports I do taekwon-do and swimming. I go regularly to the Efteling (theme park in the Netherlands).
