background participants

Participant 205

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 5, with global developmental delay, generalized low muscle tone, and recurrent respiratory infections

Date of Report

Sep 20, 2022


The participant was born at full term with no complications during pregnancy. He had jaundice during the neonatal period, which was treated with a Biliblanket. At 2 months of age, his pediatrician noticed a decline in weight gain and diagnosed him with failure to thrive. The participant was followed for weight re-checks by a gastroenterologist and a nutritionist. He began experiencing constipation issues, which was treated with a specialty formula (Nutramigen).

At 6 months of age, it was determined that the participant had significant global developmental delay, and an eye anomaly (strabismus). The participant has experienced significant setbacks as a result of recurrent respiratory infections. He has a history of being admitted to the PICU for treatment of these infections.

At around 7 months of age, the participant began eye-patching treatment for his eye anomaly (strabismus). He also rolled over for the first time. At 10 months of age, he began physical therapy treatment.

At 1 and ½ years old, the participant had a brain MRI which revealed brain abnormalities (thin corpus callosum, delayed myelination – since resolved).

At 2 and ½ years of age, the participant was non-verbal and continued to have significant gross and fine motor delays. He continues to receive physical and speech therapy. He is nearsighted and wears glasses. The participant was diagnosed with Growth Hormone Deficiency and has daily growth hormone shots.

Symptoms / Signs
  • Global developmental delay
  • Generalized low muscle tone (hypotonia)
  • Recurrent respiratory infections
  • Brain abnormalities (delayed myelination, hypoplasia of the corpus callosum)
  • Failure to thrive
  • Crossed eyes (strabismus)
  • Nearsighted
  • Deeply set eyes
  • Ear abnormalities (low-set ears, cupped ears, overfolding of helices, uplifted earlobe)
  • Upturned nose (anteverted nares)
  • Wide mouth
  • Tapered fingers
  • Gastroesophageal reflux
Current Treatments
  • Growth hormones
  • Physical therapy
  • Prescription glasses
  • Speech evaluations
Prior Treatments
  • Albuterol – respiratory infections
  • Biliblanket – jaundice
  • Budesonide – respiratory infections
  • Cold Level Laser Treatment and Therapy – developmental delay
  • Eye patch – strabismus
  • Ear tubes
  • Nutramigen
  • Occupational therapy
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Fragile X syndrome
  • Hearing loss
  • Microdeletion/microduplication syndromes
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
chr2:g.183582920T>G & g.183623622G>T
c.107T>G & c.1997+5G>T
p.Phe36Cys & N/A

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.