background participants

Participant 170

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Male, age 6, with global developmental delay, problems with coordination (ataxia) and repetitive, uncontrolled eye movements (downbeat nystagmus) caused by a change in the DAGLA gene

Date of Report

Aug 06, 2020


The participant was born full term after a pregnancy complicated by gestational diabetes and hypothyroidism in his mother. He was delivered by cesarean section due to his large size. A left club foot was identified before birth and was repaired at 2 months old. At 4 months he was noted to have repetitive, uncontrolled eye movements (downbeat nystagmus), which he had surgery for at 2 years old. He also wears glasses for his far sightedness (hyperopia).

The participant’s parents first became concerned about his development around 6-7 months of age. He first sat independently at 11 months old, his first words were at 19 months and he first walked on his own at 3 years old. Currently he is able to walk independently, however he is unsteady and has trouble with his balance and coordination. He also has a tremor which has improved over time. Recently he has been making good developmental progress and can now walk up stairs and speak in full sentences.

Symptoms / Signs
  • Delayed gross motor development
  • Delayed speech and language development
  • Problems with coordination (ataxia)
  • Tall stature
  • Large for gestational age
  • Astigmatism
  • Far sightedness (hyperopia)
  • Repetitive, uncontrolled eye movements (downbeat nystagmus)
  • Decreased muscle tone of trunk (muscular hypotonia of the trunk)
  • Trembling during precise movement (intention tremor)
  • Club foot (left talipes equinovarus)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Fragile X
  • Metabolic condition
  • Overgrowth syndromes
  • Prader-Willi syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers found a de novo genetic change in the following gene 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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