Female, passed away at 5 months, and male, passed away at 7 months, with seizures, developmental regression, and abnormal muscle tone.
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Female, age 2, with global developmental delay, finger anomalies (thumb and small finger hypoplasia), and a congenital heart defect (moderate VSD) caused by mosaic trisomy 4.
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Female, age 10, with low oxygen level in the blood (chronic hypoxemia), lung disease that causes lung scarring (pulmonary fibrosis), respiratory failure, and delayed speech and language development.
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Female, age 30, with muscle weakness and wasting, loss of consciousness, heart rate abnormalities, and suspected abnormal autonomic nervous system physiology
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Female, age 8, with seizures, hearing loss (sensorineural), vision loss, and a decline in language skills
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Male, age 13, with behavioral disorders, congenital heart defects, and a brain malformation
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Female, age 15, with a decline in language and memory (cognitive regression), sudden muscle jerks (myoclonus), and increased muscle tone in lower limbs (limb hypertonia)
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Male, age 3, with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well treated and controlled.
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Male, age 11, with autism spectrum disorder, cognitive impairment, facial feature differences, and low muscle tone caused by a change in the MRTFB gene.
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