UDN

Solving Medical Mysteries
Through Team Science

Participant 080

 

Female, age 14 with difficulty walking (gait ataxia), trembling during precise movement (intention tremor), and learning disabilities

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Participant 079

 

Female, age 12 with epileptic encephalopathy caused by a genetic change in the GABRB2 gene

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Participant 078

 

Male, age 2 with low muscle tone, muscle weakness, and chronic respiratory issues

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Participant 077

 

Male, age 23 with an undiagnosed, young adult-onset neurological disorder with cognitive decline and uncontrolled seizures

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Participant 076

 

Male, age 10 with developmental regression, absent speech, seizures, and distinct facial features

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Participant 075

 

Female, age 4 with global developmental delay, absent speech, sparse hair, seizures, brain abnormalities, and short stature

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Participant 074

 

Female, age 32 with short stature, abnormal calcification in the kidneys (nephrocalcinosis), progressive hearing impairment (sensorineural), and diabetes

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Participant 073

 

Male, age 6 with chronic high blood pressure (hypertension), recurrent respiratory infections, and low muscle tone (central hypotonia)

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Participant 072

 

Female, age 26 with recurrent and severe bacterial, viral, and fungal infections

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Participant 071

 

Female, age 8 with hereditary spastic paraplegia type 35

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