Dex is now diagnosed!
Dex is now diagnosed!
Date of Report


Dex is diagnosed with TUBB-related condition (OMIM #191130)

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.


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


If this participant sounds like you or someone you know, please contact Wilhelm Foundation at


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).

More pictures