Female, age 8 with multiple dysmorphic features, global developmental delay, and epileptic encephalopathy
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Female, age 15, with unsteady gait (gait ataxia), intellectual disability, absent speech, and seizures
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Female, age 3, with multiple congenital anomalies of the hands (bent fingers, 3-4 finger syndactyly, hypoplastic fingernails), feet (bilateral foot ectrodactyly, talipes equinovarus ), eyes (microphthalmia, multiple colobomas, malformed globes), and kidneys (bilateral renal dysplasia) caused by a change in the AXIN2 gene
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Male, age 68, with a decrease in blood pressure when moving from sitting to standing (orthostatic hypotension due to autonomic dysfunction), daytime drowsiness (narcolepsy), and cataracts caused by changes in the CHRNA3 gene.
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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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