background participants

Participant 194

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.


Male, age 9, with seizures, developmental delay, and enlarged ears (macrotia)

Date of Report

Mar 03, 2022


The participant’s complex medical history began shortly after birth. Doctors noted that he had different facial features such as an unusual head shape. He also seemed to tire easily and had poor weight gain.

At 1 month of age, the participant’s parents were concerned about reduced muscle tone (hypotonia). He crawled at 10-12 months and walked at 28 months.

At 3 months of age, he was seen in neurology and was noted to have brain abnormalities (thinning of the corpus callosum, prominent lateral ventricles, and decreased periventricular white matter).

At approximately 2 years of age, the participant began experiencing seizures and rapid eye movements (nystagmus). Since then, the participant has experienced multiple seizures each year. Some seizures have required intubation.

At 3 years of age, he was non-verbal but understood some words. He was formally diagnosed with autism spectrum disorder at that time. At age 6, he was able to say “all done.”

Symptoms / Signs
  • Seizures
  • Developmental delay
  • Enlarged ears (macrotia)
  • Developmental delay
  • Intellectual disability
  • Seizures
  • Brain abnormalities (thinning of the corpus callosum, enlarged lateral ventricles, decreased periventricular white matter)
  • Ridge on the forehead (metopic ridge)
  • Rapid eye movements (nystagmus)
  • Drooping of upper eyelids (bilateral ptosis)
  • Enlarged ear (macrotia)
  • High palate
  • Small chin (micrognathia)
  • Generalized low muscle tone (hypotonia)
  • Café-au-lait spots
  • Numbness in response to cold temperatures or stress (Reynaud’s disease)
  • Beta thalassemia trait
Current Treatments
  • Diazepam
  • Glycerin suppository
  • Hyoscyamine
  • Klonopin
  • Lidocaine cream
  • Topamax
  • Trilleptal
Prior Treatments
  • Carnitine supplements
  • Intubation
Considered treatments
Previously Considered Diagnoses
  • Autism
  • Disorders of glycosylation
  • Fragile X syndrome
  • Hypotonia syndromes
  • Metabolic conditions
  • Microdeletion/microduplication syndromes
  • Mitochondrial syndromes
  • Myotonic dystrophy
  • Prader-Willi syndrome
  • Primary carnitine deficiency
  • Smith-Lemli-Opitz syndrome
  • Spinal muscular atrophy
  • Uniparental disomy 14
Other Photographs
Genetic Variants of Interest

Changes in these genes were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
chr15:g.63097986T>C & g.62995056G>A
c.6663+2T>C & c.1997G>A
N/A & p.Arg666Gln

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.