Female, age 24, with global developmental delay, intellectual disability, brain abnormality (Arnold-Chiari type I malformation), overactive thyroid (hyperthyroidism), and brittle bones (osteopenia)
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Female, age 13, with immune deficiency, joint pain (arthralgia), inflammation of the blood vessels in the eye (retinal vasculitis), and recurrent inflammation of the liver (hepatitis) caused by a change in the GDF11 gene
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Male, age 1, with abnormal white matter of the brain (leukodystrophy), global developmental delay, abnormal brain electrical activity, and eye abnormalities (visual impairment, optic atrophy, esotropia)
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Female, age 24, with chronic high blood pressure (hypertension) and autonomic nervous system dysfunction (dysautonomia)
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Female, age 12, with a history of seizures, brain imaging abnormalities, behavioral features (ADHD, hallucinations, and sleepwalking), mild to moderate bilateral sensorineural hearing loss, and distinctive facial features
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Male, age 13, with a history of seizures, involuntary muscle contractions (dystonia), irregular and involuntary jerky movements on one side of the body (hemiballismus), difficulty walking (gait disturbance), and brain imaging abnormalities caused by a change in the EIF2AK2 gene
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Male, age 7, with global developmental delay, muscle weakness, hand tremor, increased tone in lower limbs (hypertonia), and facial differences caused by a change in the ZNF865 gene.
After sharing this page, the family was invited to talk about their story on their local news station. Watch it here!
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Male, age 4, with global developmental delay, low muscle tone of the trunk (hypotonia), seizures, a history of clubbed feet (bilateral talipes equinovarus), and head turned persistently to the right (torticollis)
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Female, age 4, with seizure-like episodes, laryngeal cleft, difficulty swallowing (dysphagia), events of low blood sugar (recurrent hypoglycemia), and an abnormal brain MRI caused by a change in the MBD5 gene.
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Female, age 5 with seizures (tonic seizures and spasms) that are resistant to treatment (refractory), global developmental delay, autism, and intermittent problems with coordination (gait ataxia)
