background participants

Participant 212

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 13, with behavioral disorders, congenital heart defects, and a brain malformation

Date of Report

Jun 05, 2023


The participant was born at full-term after a pregnancy complicated by maternal hypertension and gestational diabetes. During the first few days of life, the participant was noted to have jaundice, a heart murmur, and a heart defect known as a ventricular septal defect (VSD). At 6 months of age, he was diagnosed with a bicuspid aortic valve.

Growing up, the participant met most of his milestones. He was walking and talking at an appropriate age. At age 4, he was diagnosed with a brain malformation (Chiari malformation) that caused frequent headaches, especially when bending over or lifting something heavy. A few years later, the brain malformation was treated with two surgeries. He was also diagnosed with drooping of the eyelids (ptosis) around this time.

The participant’s headaches are still persistent to this day. He now experiences neck and spine pain. His mother has noticed he feels anxious, which has led to aggressive behavior and feelings of depression. These symptoms have been treated with medication.

Symptoms / Signs
  • Behavioral disorders (ADHD, Anxiety, Depression)
  • Congenital heart defects (VSD, bicuspid aortic valve)
  • Brain malformation (Chiari malformation)
  • Attention Deficit Hyperactivity Disorder (ADHD)
  • Anxiety
  • Depression
  • Migraines
  • Brain malformation (Chiari malformation)
  • Large head size (macrocephaly)
  • Drooping of the eyelids (ptosis)
  • Wide-set eyes (hypertelorism)
  • Congenital heart defects (VSD, bicuspid aortic valve)
  • Fat buildup in the liver (hepatic stenosis)
  • Knock knees (genu valgum)
  • Flat feet (pes planus)
  • Low vitamin D levels
  • Skin discoloration (café au lait spots)
Current Treatments
  • Fluoxetine
  • Flovent HFA inhaler
  • Melatonin
  • Meloxicam
  • Naratriptan
  • Topamax
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Fragile X syndrome
  • Microdeletion/microduplication syndromes
  • Noonan syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
chr9:g.139749919_ 139749925del & g.139754453C>G
c.1319_1325del & c.3309C>G
p.Arg440GlnfsTer101 & p.Ser1103Arg
chr2:g.102805698A>G & g.102808560G>A
c.221A>G & c.469G>A
p.His74Arg & p.Gly157Ser
Autosomal dominant/autosomal recessive

If this participant sounds like you or someone you know, please contact us!


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