background participants

Participant 114

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 10, with severe global developmental delay, seizures, and aggressive behavior

Date of Report

Mar 11, 2019


The participant was born prematurely at 27 weeks and experienced many complications early in life. He currently has seizures, low muscle tone (generalized hypotonia, facial hypotonia), and severe global developmental delay. These symptoms are not believed to be caused by his premature birth. The participant also has distinct facial features, a small head size (microcephaly), and outbursts of aggressive behavior and abnormal temper tantrums.

Symptoms / Signs
  • Severe global developmental delay
  • Low muscle tone (generalized hypotonia, facial hypotonia)
  • Seizures
  • Muscle weakness
  • Decreased muscle mass
  • Feeding difficulties
  • Small head size (microcephaly)
  • Abnormal facial shape
  • Wide mouth
  • Open mouth
  • Everted lower lip vermilion
  • Coarse facial features
  • Protruding jaw (mandibular prognathia)
  • Long region between nose and upper lip (long philtrum)
  • Prominent nose
  • Excessive facial hair (facial hirsutism)
  • Broad eyebrow
  • Abnormality of the neck
  • Curved 5th finger (clinodactyly of the 5th finger)
  • High arched left foot (pes cavus)
  • Broad big toe (broad hallux)
  • Pink/blue appearance to skin when in cold conditions (cutis marmorata)
  • Behavioral abnormality
  • Aggressive behavior
  • Abnormal temper tantrums
Current Treatments
  • Zonizamide – seizures
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Metabolic condition
  • Microdeletion/duplication disorder
  • Mitochondrial disorder
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
see gene page
see gene page
see gene page
see gene page
see gene page
Autosomal recessive
chr4:g.126372145G>A & g.126371302C>T
c.9974G>A & c.9131C>T
p.Arg3325His, p.Ala3044Val

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


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