UDN

Solving Medical Mysteries
Through Team Science

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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Participant 165

 

Female, age 48, with itchy skin inflammation (atopic dermatitis) and allergies (allergic rhinitis) caused by a change in the FLG gene

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Participant 164

 

Female, age 25, with severe intellectual disability, seizures, and absent speech caused by a change in the CDK19 gene

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