Jun 29, 2020
The participant experienced early developmental delays. She crawled and sat independently at 9 months and had a vocabulary of 3 words by 12-15 months. However, she lost her language skills after her seizures began at 14-15 months. Her generalized tonic-colonic seizures occur about once a week in addition to more frequent, smaller seizures. Currently, the participant is non-verbal but is able to gesture and make sounds.
In addition to developmental delays and intellectual disability, the participant has several other clinical and behavioral features. Some of her other clinical features include painful loose joints (joint laxity) and scoliosis. Her behavioral features include placing her hands in her mouth, occasionally holding her hands clasped, occasionally grinding her teeth, and severe pica.
Clinicians and researchers have identified the following de novo genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.