UDN

Solving Medical Mysteries
Through Team Science

Participant 090

 

Male, age 5 with absent speech, intellectual disability, and uncoordinated walking (gait ataxia) caused by a genetic change in the ATP6V1A gene

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Participant 089

 

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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Participant 088

 

Female, age 5 with short stature, hyper-extensible joints, fine hair, anemia, and leukocytosis

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Participant 087

 

Male, age 8 with difficulty growing (failure to thrive) and GI issues (gastrointestinal dysmotility)

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Participant 086

 

Female, age 25 with Landau-Kleffner syndrome and progressive lower limb weakness

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Participant 085

 

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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Participant 084

 

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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Participant 083

 

Male, age 3 with involuntary movements (choreoathetosis), global developmental delay, eye turning inward (alternating esotropia), episodic eye rolling, and low muscle tone (hypotonia)

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Participant 082

 

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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Participant 081

 

Female, age 47 with painful redness of the feet, hands, and ears (erythromelalgia)

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