background participants

Participant 139

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 26 with a history of global developmental delay, moderate intellectual disability, and autism caused by a change in the SPTBN1 gene

Date of Report

Jul 24, 2019


The participant’s parents first became concerned about her development at 18 months when they noticed that she had not started talking or walking independently. The participant continued to be delayed in meeting developmental milestones throughout her childhood. Between 18 months and 3 years, she also developed rigid and obsessive-compulsive behavior and was diagnosed with pervasive developmental disorder, not otherwise specified (PDD-NOS).

At 6 years old, an electroencephalogram (EEG) noted some abnormal brain activity. Unfortunately, her symptoms did not improve with medication. She continues to have moderate intellectual disability and impaired social interactions.

The participant also has some distinctive physical features, such as a broad forehead, skull abnormalities (bitemporal hollowing, dolichocephaly), and increased curvature of the spine (scoliosis, kyphosis). She has some heart abnormalities (aortic regurgitation, aortic aneurysm) as well.

Symptoms / Signs
  • Global developmental delay
  • Moderate Intellectual disability
  • Autism
  • Anxiety
  • Skull abnormalities (bitemporal hollowing, dolichocephaly)
  • Heart abnormalities (aortic regurgitation, aortic aneurysm)
  • Tapered fingers (tapered distal phalanges of finger)
  • Increased curvature of the spine (scoliosis, kyphosis)
  • Loose joints (joint laxity)
  • Impaired social interactions
  • Obsessive-compulsive behavior
  • Repetitive compulsive behavior
  • Tics
  • Hyperactivity
Current Treatments
Prior Treatments
  • Selective serotonin reuptake inhibitor (SSRI) – anxiety
  • Tegretol – abnormal brain activity
Considered treatments
Previously Considered Diagnoses
  • Creatine deficiency syndromes
  • Metabolic condition
  • Microdeletion/microduplication disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following de novo genetic change to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant

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.