background participants

Participant 209

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 autism spectrum disorder, cognitive impairment, facial feature differences, and low muscle tone caused by a change in the MRTFB gene.

Date of Report

Jan 03, 2023


The participant was delivered via c-section at 39 weeks 5/7 days gestation with a NICU stay of 9 days due to inhalation of amniotic fluid and meconium (meconium aspiration) and respiratory distress. The participant’s mother noted severe vomiting and nausea during pregnancy, but otherwise had normal fetal movements and prenatal screening.

At 6 months of age, developmental delays were first noted when he was unable to roll over. At 9 months, the participant began physical therapy, and at 12 months of age, he began occupational therapy and speech therapy. At 3 years old, the participant was diagnosed with autism spectrum disorder and later diagnosed with ADHD and noted to have difficulty making movements for speech (speech apraxia). The participant gets along well with adults but has difficulties in motor planning with other children, repetitive giggling, and watching spinning objects. The participant would also do repetitive behaviors with his hands. However, he has improved after an intensive hospitalization program. The participant can speak in full sentences but cannot perform math calculations. The participant is also receiving special education.

The participant has facial feature differences which include strabismus, downward slanting of eyes (down slanting palpebral fissures), low set ears rotated backward (low set posteriorly rotated ears), a flat/low nasal bridge (depressed nasal bridge), skin fold of the upper eyelid (epicanthal folds), nose differences (tubular nose with full and slightly bulbous tip), underdevelopment of the eye sockets, cheekbones, and upper jaw (midface hypoplasia), as well as one episode of left hip pain (synovitis of the left hip). The participant had low muscle tone (hypotonia), but this is now resolved. At 2 years of age, the participant underwent surgery to correct his strabismus. The participant was noted to have low carnitine levels, so he is receiving carnitine as a supplement.

Symptoms / Signs
  • Autism spectrum disorder
  • Cognitive impairment
  • Facial feature differences (dysmorphic facial features)
  • Low muscle tone (hypotonia)
  • Attention-deficit/hyperactivity disorder
  • Developmental delay
  • Underdevelopment of eye sockets, cheekbones, and upper jaw (midface hypoplasia)
  • Strabismus
  • Skin fold of the upper eyelid (epicanthal folds)
  • Downward slanting of eyes (down slanting palpebral fissures)
  • Low set ears rotated backwards (low set posteriorly rotated ears)
  • Fluid in middle ear (otitis media with effusion)
  • Nose differences (tubular nose with full and slightly bulbous tip)
  • Flat/low nasal bridge (depressed nasal bridge)
  • Speech apraxia (difficulty making movements for speech)
  • Single episode of left hip pain (synovitis of left hip)
Current Treatments
  • Carnitine
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman Syndrome
  • Fragile X syndrome
  • Microdeletion/microduplication syndromes
  • Prader Willi Syndrome
Other Photographs
Genetic Variants of Interest

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

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change

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


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