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Participant 023

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Female, age 24, with poor muscle coordination (ataxia), blurred vision (cataracts), intellectual disability, hearing loss (sensorineural), and small, discolored, and easily damaged teeth (amelogenesis imperfecta)

Date of Report

May 31, 2017


As an infant, the patient had low muscle tone (hypotonia) and was not meeting developmental milestones. She started wearing hearing aids at the age of 17 months due to hearing loss (sensorineural) and was diagnosed with cataracts at 2 years old. She had one seizure at 6 years old, but no seizures have occurred since then. She has slurred speech (dysarthria) and intellectual disability. 

The patient also has short stature and small, discolored, and easily damaged teeth (amelogensis imperfecta). She has loose ligaments (ligamentous laxity) and absent reflexes (areflexia). She also has a heart murmur, mitral valve prolapse, and low platelets in her blood (thrombocytopenia).

Symptoms / Signs
  • Growth delay
  • Delayed skeletal maturation
  • Short stature
  • Severe global developmental delay
  • Intellectual disability
  • Seizures
  • Trembling during precise movement (intention tremor)
  • Poor muscle coordination (ataxia)
  • Walks with legs spaced far apart (broad-based gait)
  • Loose ligaments (ligamentous laxity)
  • Absent reflexes (areflexia)
  • Narrow forehead
  • Brittle scalp hair
  • Close-set eyes (hypotelorism)
  • Outward turned eyes (exotropia)
  • Blurred vision (cataracts)
  • Bulbous nose
  • Hearing loss (sensorineural deafness)
  • Narrow mouth
  • High palate
  • Increased ridges in roof of mouth (prominent palatine ridges)
  • Small, discolored, and easily damaged teeth (amelogenesis imperfecta)
  • Cone-shaped teeth (conical tooth)
  • Hard and thin dental enamel (hypoplasia of dental enamel)
  • Missing teeth (hypodontia)
  • Slurred speech (dysarthria)
  • Heart murmur
  • Opening between left heart chambers (mitral valve prolapse)
  • Outward-protruding pectus (pectus carinatum)
  • Low platelets in blood (thrombocytopenia)
  • Nose bleeds (epistaxis)
  • Heavy periods (menorrhagia)
  • Club foot (talipes valgus)
Current Treatments
  • Topical cortisone- mild eczema
Prior Treatments
  • Cataract surgery
Considered treatments
Previously Considered Diagnoses
  • Chromosomal disorder
  • Fanconi anemia
  • Marinesco-Sjogren syndrome
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Mitochondrial disorder
Other Photographs
Genetic Variants of Interest

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