UDN

Solving Medical Mysteries
Through Team Science

Participant 181

 

Female, age 24 with chronic high blood pressure (hypertension) and autonomic nervous system dysfunction (dysautonomia)

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Participant 180

 

Female, age 12 with a history of seizures, brain imaging abnormalities, behavioral features (ADHD, hallucinations, and sleepwalking), mild to moderate bilateral sensorineural hearing loss, and distinctive facial features

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Participant 179

 

Male, age 13 with a history of seizures, involuntary muscle contractions (dystonia), irregular and involuntary jerky movements on one side of the body (hemiballismus), difficulty walking (gait disturbance), and brain imaging abnormalities caused by a change in the EIF2AK2 gene

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Participant 178

 

Male, age 7, with global developmental delay, muscle weakness, hand tremor, increased tone in lower limbs (hypertonia), and facial differences

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Participant 177

 

Male, age 4 with global developmental delay, low muscle tone of trunk (hypotonia), seizures, a history of clubbed feet (bilateral talipes equinovarus), head turned persistently to the right (torticollis), and webbing of the penis (penoscrotal fusion)

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Participant 176

 

Female, age 4 with seizure-like episodes, laryngeal cleft, difficulty swallowing (dysphagia), events of low blood sugar (recurrent hypoglycemia), and abnormal brain MRI

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Participant 175

 

Female, age 5 with seizures (tonic seizures and spasms) that are resistant to treatment (refractory), global developmental delay, autism, and intermittent problems with coordination (gait ataxia)

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Participant 174

 

Male, age 4 with seizures (bilateral tonic-clonic with generalized onset, focal impaired awareness seizure), involuntary muscle contractions (dystonia), global developmental delay, and upbeat nystagmus

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Participant 173

Female, age 14 with severe epileptic encephalopathy, global developmental delay, and clumsy, broad-based gait

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Participant 172

 
Female, age 9 with severe global developmental delay, muscle tone abnormalities (hypotonia of the trunk, hypertonia of wrists and ankles), tightened muscles and tremor of lower extremities (spasticity), brain abnormalities (cerebellar atrophy, periventricular white matter hyperdensities), and cerebral folate deficiency (decreased CSF 5-methyltetrahydrofolate concentration) thought to be caused by a change in the SPTSSA gene

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