UDN

Solving Medical Mysteries
Through Team Science

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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Participant 070

 

Female, age 26 with an undiagnosed progeria-like syndrome

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Participant 069

 

Female, age 13 with recurrent skin rashes, immune system abnormalities (autoimmune hemolytic anemia, antiphospholipid antibody positivity), and muscle pain (myalgia)

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Participant 068

 

Female, age 8 with seizures, weekly episodes of confusion and hallucination, problems with coordination (ataxia), tremor, ulcerative colitis, pancreas inflammation (pancreatitis), and developmental delay

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Participant 067

 

Male, age 7 with global developmental delay, lack of coordinated movement (dysmetria), toe walking, right sided weakness, right hearing impairment, and weak cartilage in the walls of the larynx (laryngomalacia)

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