UDN

Solving Medical Mysteries
Through Team Science

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 a 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) caused by a change in the SPTSSA gene

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Participant 171

 

Male, age 25, with absent shoulder muscles (congenital bilateral absence of deltoid muscles), underdeveloped bicep tendons, developmental delay, joint hyper-mobility, and skeletal abnormalities caused by a change in the CDH2 gene

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Participant 170

 

Male, age 6, with global developmental delay, problems with coordination (ataxia) and repetitive, uncontrolled eye movements (downbeat nystagmus) caused by a change in the DAGLA gene

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Participant 169

 

Male, age 8, with muscle weakness, hypotonia, and elevated serum creatine kinase caused by a change in the LMNA gene

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Participant 168

 

Male, age 7, with global developmental delay, tight muscles in his legs (increased muscle tone and spasticity), decreased muscle tone in his shoulders and waist (central hypotonia), and regression caused by a change in the PRUNE1 gene

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Participant 167

 

Female, age 8, with a movement disorder, global developmental delay, low muscle tone (hypotonia), and brain abnormalities (hypomyelination, cerebellar atrophy) caused by a change in the TOMM70 gene

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Participant 166

 

Male, age 5, with multiple bowel atresias prior to birth (meconium peritonitis), blocked bile ducts (biliary atresia), stroke, hypertension, hypoglycemia, pancreatic insufficiency, hypotonia and global developmental delay

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