UDN

Solving Medical Mysteries
Through Team Science

Participant 171

 

Male, age 25 with absent shoulder muscles (congenital bilateral absence of deltoid muscles), underdeveloped bicep tendons, developmental delay, joint hypermobility, 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 variant in LMNA

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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 global developmental delay, low muscle tone (hypotonia), a movement disorder, 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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Participant 163

 

Male, age 27 with progressive mental deterioration, seizures, and brain abnormalities

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Participant 162

 

Female, age 9, with brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy), stiffness of the legs (spastic paraplegia) and muscle fiber disease (myopathy)

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