Male 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). His condition was progressive and he experienced further loss of skills and brain atrophy over time, ultimately passing away when he was 9 years old.
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Female, age 8, with an undiagnosed progressive neuromuscular disorder with fatigue, global developmental delay and regression, severe gastrointestinal issues including poor gut motility with TPN dependency, failure to thrive, seizures, frequent infections, and autonomic dysfunction
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Female, age 47, with painful redness of the feet, hands, and ears (erythromelalgia)
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Female, age 18, with difficulty walking (gait ataxia), trembling during precise movement (intention tremor), and learning disabilities caused by changes in the NUBPL gene
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Female, age 12, with epileptic encephalopathy caused by a genetic change in the GABRB2 gene
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Male, age 2, with low muscle tone, muscle weakness, and chronic respiratory issues
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Male, age 23, with an undiagnosed, young adult-onset neurological disorder with cognitive decline and uncontrolled seizures
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Male, age 12, with developmental regression, absent speech, seizures, and distinct facial features
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Female, age 5, with global developmental delay, absent speech, sparse hair, seizures, brain abnormalities, and short stature caused by changes in the TBCK gene
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Female, age 32, with short stature, abnormal calcification in the kidneys (nephrocalcinosis), progressive hearing impairment (sensorineural), and diabetes
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