background participants

Participant 019

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Male, age 2, with visual impairment, repetitive and uncontrolled eye movements (nystagmus), low muscle tone (hypotonia), unsteady gait, and developmental delay

Date of Report

May 08, 2017


Since birth, the patient has had visual impairment and repetitive, uncontrolled eye movements (nystagmus). A brain MRI was normal and ophthalmology was unable to find an underlying cause.

The patient also has low muscle tone (hypotonia) and walks with his legs spaced far apart (broad-based gait).

Developmentally, the patient has showed mild delays in both his motor and speech skills.

Symptoms / Signs
  • Mild developmental delay
  • Poor hand-eye coordination
  • Visual impairment
  • Crossed eyes (strabismus)
  • Horizontal, repetitive, uncontrolled eye movements (nystagmus)
  • Dark-colored area skin on lower back and right leg (hypermelanotic macules)
  • Low muscle tone (muscular hypotonia)
  • Bowing of shinbones (tibial bowing)
  • Unsteady walk with legs spaced far apart (unsteady & broad-based gait)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
Other Photographs
Genetic Variants of Interest

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