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Participant 083

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Male, age 4, with involuntary movements (choreoathetosis), global developmental delay, epileptic encephalopathy, eye turning inward (alternating esotropia), episodic eye rolling, and low muscle tone in trunk (axial hypotonia)

Date of Report

Jul 16, 2019


The participant has experienced involuntary movements of his arms, legs, and face continuously since birth (choreoathetosis). He also has low muscle tone, underactive reflexes, and abnormal eye movements with episodes of eye rolling. He has brain disease with seizures (epileptic encephalopathy) and a recent MRI of his brain showed brain volume loss and abnormal structures. He was previously able to grasp items and bring them to his mouth, but he is no longer able to.

Other symptoms include visual and hearing impairment, abnormal facial features, light pigmentation (hypopigmentation) that may be a familial trait, a port-wine stain birthmark (nevus flammeus), and feeding difficulties.

Symptoms / Signs
  • Involuntary movements (choreoathetosis)
  • Involuntary movement of face and mouth muscles (orofacial dyskinesia)
  • Underactive reflexes (reduced tendon reflexes)
  • Poor head control
  • Low muscle tone (generalized hypotonia)
  • Abnormal eye movements (abnormality of saccadic eye movements, alternating esotropia, eye rolling episodes)
  • Brain disease (encephalopathy)
  • Seizures and abnormal brain activity (EEG abnormality)
  • Abnormal brain structure and brain volume loss (abnormality of the corpus callosum, cerebellar atrophy, hypoplasia of the brainstem, abnormality of the cerebral white matter, cerebral white matter atrophy, elevated brain lactate level by MRS, dilation of lateral ventricles, dilated third ventricle, abnormal morphology of the hippocampus)
  • Irritability
  • Developmental regression
  • Profound global developmental delay
  • Flattened spot on back of head (brachycephaly)
  • Visual impairment
  • Deafness (congenital sensorineural hearing impairment)
  • Abnormal facial features (short philtrum, downslanted palpebral fissures, widely spaced primary teeth, overhanging nasal tip)
  • Red-colored birthmark on eyelids, forehead, and neck (nevus flammeus)
  • Light pigmentation of hair and eyes (generalized hypopigmentation) (may be familial)
  • Deep crease in palm of hand (deep palmar crease)
  • Broad thumb
  • Curved spine (thoracolumbar kyphosis)
  • Feeding difficulties
  • Gastroesophageal reflux
Current Treatments
  • Gabapentin – movement disorder
  • Keppra – movement disorder
  • Mysoline – movement disorder
Prior Treatments
Considered treatments
  • Levodopa – movement disorder
Previously Considered Diagnoses
  • 15q11.2 microdeletion syndrome
  • Epilepsy condition
  • Fragile X
  • Microdeletion/duplication disorder
  • Mitochondrial conditions
  • Neuronal ceroid lipofuscinoses
  • Rett/Angelman spectrum disorder
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change

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


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