background participants

Participant 080

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Female, age 18, with difficulty walking (gait ataxia), trembling during precise movement (intention tremor), and learning disabilities caused by changes in the NUBPL gene

Date of Report

Aug 25, 2021


The participant met her initial developmental milestones on time. She sat up at 6 months, walked at 18 months, and started talking at 24 months. However, around 18-24 months, her parents noticed that she was clumsy and seemed to have problems with her balance. These balance problems did not improve even with occupational and physical therapy. She currently has difficulty walking (gait ataxia and imbalance) but does not require assistive devices.

At age 3, the participant developed a tremor in her arms. She now tremors in her arms and legs when standing and trembles more severely when she is upset or tired.

The participant has difficulty in math and reading and tends to speak at a younger developmental age level. She is currently in 8th grade but functions at a 5th/6th grade level and has an individualized education program (IEP). She has had a stable academic performance with no known regression. Recently she has developed a fear of circles and has days where she acts younger than her age. She had a brain MRI three years ago that showed abnormal findings (cerebellar atrophy).

Symptoms / Signs
  • Intellectual disability
  • Abnormal brain findings (cerebellar atrophy)
  • Lack of coordinated movements (dysmetria)
  • Impaired ability to do rapid, alternating movements (dysdiadochokinesis)
  • Trembling during precise movement (intention tremor)
  • Difficulty walking with uncoordinated and imbalanced walk (gait ataxia and imbalance)
  • Learning disability
  • Poor speech
  • Long area between the open eyelids (long palpebral fissure)
  • Underdeveloped ear (microtia)
  • Tension-type headache
  • Abnormal fear/anxiety-related behavior
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Autosomal recessive ataxia syndromes
  • Congenital disorder of glycosylation
  • Fragile X syndrome
  • Friedreich’s ataxia
  • Metabolic condition
  • Microdeletion/duplication disorder
  • Spinocerebellar ataxia
Other Photographs
Genetic Variants of Interest

In 2021, clinicians and researchers identified the following genetic changes to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
chr14:g.32031331G>A & g.32068516G>T & g.32319298T>C
c.166G>A & c.313G>T & c.815-27T>C
p.Gly56Arg & p.Asp105Tyr & N/A

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


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