UDN

Solving Medical Mysteries
Through Team Science

Participant 098

 

Female, age 33 with rapid, unexplained bilateral vocal cord spasms and muscle weakness

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Participant 097

 

Female, age 9 with spastic diplegia, low bone mineral density, and global developmental delay

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Participant 096

 

Female, age 18 with hearing and vision loss, bleeding disorder (Von Willebrand disease), and history of a tumor in infancy (sacrococcygeal germ cell tumor)

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Participant 095

 

Male, age 7 with intractable seizures, global developmental delay, absent speech, and low muscle tone (muscular hypotonia)

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Participant 094

 

Male, age 16 with aromatic l-amino acid decarboxylase deficiency

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Participant 093

 

Female, age 10 with a tall and slender build (marfanoid habitus), seizures, IgA deficiency, and GI issues (gastrointestinal dysmotility)

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Participant 092

 

Female, age 6 with global developmental delay, severe motor impairment, involuntary muscle contractions (dystonia), and variants in the PAPSS1 gene

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Participant 091

 

Female, age 57 with progressive, undiagnosed muscle weakness

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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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