background participants

Participant 036

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Male, age 4, with absent speech, low muscle tone (hypotonia), developmental delay, small head size (microcephaly), and short stature

Date of Report

Oct 03, 2017


The patient was born early at 35 weeks, but only spent one day in the neonatal intensive care unit (NICU). At about 9 months of age, the patient’s parents started having concerns because he was not meeting his developmental milestones. Although he continues to make steady progress, the patient has never developed speech. He is currently receiving services through the county.

Symptoms / Signs
  • Developmental delay
  • Absent speech
  • Decreased body weight
  • Short stature
  • Low muscle tone (hypotonia)
  • Small head size (microcephaly)
  • Decrease in brain myelination (cerebral hypomyelination)
  • Elevated brain choline level
  • Eyes occasionally turn outward (intermittent exotropia)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Fragile X syndrome
  • Pelizaeus-Merzbacher-like disease
  • Mucopolysaccharidosis type I
Other Photographs
Genetic Variants of Interest

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