background participants

Participant 222

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 11, with gross motor delay, language impairment (aphasia), and autism

Date of Report

Dec 08, 2023


The participant was born at full-term. He was delivered by C-section because he had stopped moving down the birth canal (arrest of descent).

At 9 months, his parents become concerned when he was not crawling or pulling up to stand. At 15 months of age, he began interventional therapy with infant stimulation and physical therapy. At 19 months of age, he started crawling. He did not stand up until 2 years of age. He was diagnosed with having autism spectrum disorder at 3 ½ years of age.

At 4 years of age, doctors thought the participant may have an Angelman syndrome-like disorder. He was treated on a therapeutic trial of Sinemet. Within a year, he began walking. The treatment was later discontinued because it was no longer beneficial to the participant.

The participant began experiencing seizures at 7 years of age. He also has a long history of poor appetite, diarrhea, and constipation. He has flexible hips, which is likely from sitting with his feet externally rotated on the floor.

The participant has a previous diagnosis of cerebral palsy and there is question of dopa-responsive dystonia.

The participant has a younger sister with similar symptoms. Her developmental delays began at 12 months. She is also nonverbal with motor delays. She was also trialed on Sinemet but did not tolerate it.

Symptoms / Signs
  • Delayed gross motor development
  • Autism
  • Juvenile onset seizures
  • Failure to thrive
  • Skull abnormalities (plagiocephaly)
  • Absent speech
  • Involuntary muscle contraction (L-dopa responsive dystonia)
  • Cerebral palsy
Current Treatments
  • Asetepro
  • Cyproheptadine
  • Flonase
  • Levasin
  • Melatonin
  • MiraLAX (as needed)
  • Zonisamide
  • Zyrtec
Prior Treatments
  • Sinemet
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Dopa-responsive dystonia
  • Fragile X syndrome
  • Metabolic syndromes
  • Microdeletion/microduplication syndromes
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Phase: FAT1 and DST variants are known to be biallelic / in trans.

Segregation: FAT1 and DST variants segregate with similarly affected sister in compound heterozygous state.

Participant’s sister is also heterozygous for the CAMTA1 variant (maternally inherited).

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
see gene page
see gene page
see gene page
see gene page
see gene page
see gene page
see gene page
see gene page
see gene page
see gene page
Autosomal recessive
chr6:g.56482137 T>C; chr6:g.56485023 T>C
c.6128A>G; c.3809A>G
p.Glu2043Gly; p.Lys1270Arg

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


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