Oct 16, 2018
At approximately 1-2 months of age, the participant showed signs of slow growth and was diagnosed with developmental delay as well as low muscle tone (muscular hypotonia). The participant has since been identified to have absent speech, moderate intellectual disability, and uncoordinated walking (gait ataxia). He was recently identified to have a change in the ATP6V1A gene that is causative of his condition. However, the participant does not experience seizures like many other individuals with changes in this gene.
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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