Male, age 40, with abnormal bladder function (nocturia, polyuria, isosthenuria), acute kidney injury, and poor regulation of heart rate when moving from sitting to standing (postural orthostatic tachycardia syndrome)
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Female, age 5, with short stature, hyper-extensible joints, fine hair, anemia, and leukocytosis
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Male, age 8, with difficulty growing (failure to thrive) and GI issues (gastrointestinal dysmotility)
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Female, age 28, with Landau-Kleffner syndrome and progressive lower limb weakness caused by changes in the CHKB gene
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Female, age 5, with developmental delay, seizures, congenital cataracts, hearing loss, swallowing difficulty, atrial septal defect, repetitive behaviors (stereotypy), low blood platelet levels (thrombocytopenia), anemia, and a blueberry muffin rash identified at birth
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Female, age 10, with multiple congenital anomalies including choanal stenosis, Chiari 1 malformation, two-vessel short cord, right eye microphthalmia with coloboma, and heart defects (bicuspid aortic valve, hypoplasia of aortic arch)
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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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