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Participant 229


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 4, with low muscle tone, motor delays, speech and language delays, and autism

Date of Report

Dec 05, 2024

Description

The participant was born full-term after an uncomplicated pregnancy, labor, and delivery. At 4 months old, the participant was noted to have poor muscle control and low muscle tone. She began physical therapy at that time. The participant experienced delays in motor development and does not walk independently. The participant has also seen orthopedics for hip joint abnormalities. She also is delayed in speech and language development. At 2 years old, the participant was formally diagnosed with autism. She began to use words at around the same time. The participant regularly receives occupational, speech, and ABA therapy. She has also been noted to have subtle differences in her face (hypertelorism, protruding ears). At 3 years old, the participant had a seizure in the setting of a fever and virus.

Symptoms / Signs
  • Low muscle tone
  • Motor delay
  • Delayed speech and language development
  • Autism
  • Wide spaced eyes (hypertelorism)
  • Protruding ear
  • Ear anomaly (absent antihelix)
  • Misalignment of eyes (esotropia)
  • Protruding tongue
  • Low muscle tone (hypotonia)
  • Externally rotated hips and hip deformity (Bilateral coxa valga)
  • Low muscle tone (hypotonia)
  • Large for gestational age
  • Abnormal repetitive movements
Current Treatments
  • Diazepam
  • Epinephrine
  • MiraLAX
  • Polyethylene glycol
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Autism/ID related conditions
  • Microdeletion/microduplication conditions
  • Angelman syndrome
  • Prader-Willi syndrome
  • Spinal Muscular Atrophy
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
RNU4-2
de novo
chr12:g.120729642T>C
NR_003137.2
n.65A>G
N/A
Contact

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