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Participant 203

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.


Female, age 5, with short stature, hearing loss, heart differences, gross motor delay, and low muscle tone

Date of Report

Aug 29, 2022


The participant was delivered via C-section at 35 weeks gestation. The pregnancy was complicated by persistent nausea and vomiting (hyperemesis gravidarum), as well as decreased fetal movements. In early infancy, she exhibited sweating with feeding which led to the detection of an irregular heartbeat (Wolff-Parkinson-White syndrome), which was treated with flecainide, but the participant has since undergone an ablation procedure after an escalation of her heart muscle disease (cardiomyopathy).

The participant was fitted with hearing aids at 2 months of age after being diagnosed with hearing loss (bilateral sensorineural). She exhibited delays (gross motor delays) in crawling, walking, sitting, climbing stairs, and running. She has a tendency to pocket foods and choke on liquids. At 12 months of age, she was found to be small for her age (short stature, 3rd percentile for weight, 2nd percentile for height).

The participant began walking at 15 months of age. She gets tired easily, falls occasionally, and exhibits low muscle tone (hypotonia). She does not show any delays in fine motor, speech, language, or social behavior milestones. She received occupational therapy until 3 years old and is currently still receiving physical therapy.

The participant does not have bowel or bladder control. She also exhibits both diarrhea and constipation and is taking senna and MiraLAX to treat this. The participant cannot sense when she is wet but can sense when soiled.

The participant’s neurologic exam was significant for unequal pupil size (anisocoria), low muscle tone (diffuse hypotonia), and abnormal reflexes. The participant recently developed epileptic seizures and heart muscle disease (cardiomyopathy). The participant’s epileptic seizures are treated with Keppra and her heart muscle disease (cardiomyopathy) is treated with Carvedilol and Enalapril. She also has a family history of a sister who passed away from medical complications related to her symptoms (muscular dystrophy, hypotonia, heart defect, sensorineural hearing loss).

Symptoms / Signs
  • Small for age (short stature)
  • Irregular heartbeat (Wolff-Parkinson-White syndrome)
  • Low muscle tone (generalized hypotonia)
  • Abnormal reflexes (reduced tendon reflexes)
  • Motor delay
  • Unequal pupil size (anisocoria)
  • Ear structure differences (auricular tag)
  • Hearing loss (sensorineural hearing loss)
  • Heart muscle disease (cardiomyopathy)
  • Heart defects (mitral regurgitation, atrial septal defect)
  • Constipation
  • Digit differences (clinodactyly of the 5th finger, 2-3 toe syndactyly)
Current Treatments
  • Hearing aids
  • MiraLAX
  • Physical therapy
  • Senna
  • Carvedilol
  • Enalapril
  • Keppra
Prior Treatments
  • Occupational therapy
  • Cardiac ablation
Considered treatments
Previously Considered Diagnoses
  • Chromosomal aneuploidy and structural abnormalities
  • Microdeletion/microduplication syndromes
  • Myopathy
  • Neuromuscular junction disorder
  • Polyneuropathy
  • Syndromic/non-syndromic hearing loss
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
Autosomal recessive
chr2:g.24255765C>A & g.24270183C>T
c.1870G>T & c.-19+1G>A
p.Asp624Tyr & N/A
Autosomal recessive
chr7:g.157333412T>C & g.157691409C>G
c.3044A>G & c.1744G>C
p.Gln1015Arg & p.Glu582Gln
Autosomal dominant

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


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