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Participant 090


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Male, age 5 with absent speech, intellectual disability, and uncoordinated walking (gait ataxia) caused by a genetic change in the ATP6V1A gene

Date of Report

Oct 16, 2018

Description

At approximately 1-2 months of age, the participant showed signs of slow growth and was diagnosed with developmental delay as well as low muscle tone (muscular hypotonia). The participant has since been identified to have absent speech, moderate intellectual disability, and uncoordinated walking (gait ataxia). He was recently  identified to have a change in the ATP6V1A gene that is causative of his condition. However, the participant does not experience seizures like many other individuals with changes in this gene.

Symptoms / Signs
  • Moderate global developmental delay
  • Delayed fine motor development
  • Delayed gross motor development
  • Delayed speech and language development
  • Moderate intellectual disability
  • MRI abnormalities (bilateral diffuse cerebral volume loss, delayed myelination)
  • Low muscle tone (muscular hypotonia)
  • Uncoordinated walking (gait ataxia)
  • Oval face
  • Widely spaced teeth
  • Birth mark (capillary hemangioma)
  • Absent speech
  • Drooling
Current Treatments
  • Physical, aqua, feeding and speech therapy
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Metabolic condition
  • Microdeletion/duplication disorder
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant
Chr3:113513948
NM_001690
c.1123C>A
p.P375T
Contact

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