UDN

Solving Medical Mysteries
Through Team Science

Participant 019

 

Male, age 2, with visual impairment, repetitive and uncontrolled eye movements (nystagmus), low muscle tone (hypotonia), unsteady gait, and developmental delay

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Participant 018

progressive neuromuscular condition

 

Female, age 22, with a progressive neuromuscular condition involving weakness and restrictive lung disease

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Participant 017

atopic dermatitis

 

Female, age 26, with itchy skin inflammation (atopic dermatitis), hyperactive immune system, asthma, very high immunoglobulin E (IgE) levels, and swollen lymph nodes (lymphadenopathy)

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Participant 016

Floating Harbor syndrome

 

Male, age 8, with feeding issues, delayed bone age, chronic ear infections, and sleep apnea caused by a change in the SRCAP gene (Floating Harbor syndrome)

 

 

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Participant 015

astrocytoma

 

Female, age 14, with autism spectrum disorder, intellectual disability, self-injurious behaviors, seizures, muscle weakness, a large head size (macrocephaly), and a brain tumor (astrocytoma)

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Participant 014

hearing loss

 

Female, age 25, with early onset hearing loss, frequent fevers and flares of pain with blurred vision and vomiting, systemic itching, delayed gastric emptying (gastroparesis), recurrent infections, and reduced sweating caused by a change in the MPEG1 gene

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Participant 013

fasiculations

 

Female, age 49, with muscle weakness, balance problems, clumsiness, muscle twitching (fasciculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures

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Participant 012

 

Female, age 2, with congenital disorder of glycosylation (type IIm) caused by a change in SLC35A2 gene

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Participant 011

nasal polyps

 

Male, age 55, with wheezing, chronic sinus infections (sinusitis), nasal polyps, chronic fatigue, a bulging, weakened wall of the aortic root (ascending aortic root aneurysm), and neuropathy caused by changes in the IFIH1 gene

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Participant 010

complex neuromuscular condition

 

Male, age 7, with a complex neuromuscular condition involving vocal cord paralysis, feeding issues, and reduced nerve responses

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