UDN

Solving Medical Mysteries
Through Team Science

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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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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Participant 161

 

Male, age 19, with short stature, heart abnormalities (vascular ring, right aortic arch), exercise intolerance, and abnormal location of the thymus (ectopic thymus tissue)

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Participant 160

 

Male, age 7, with episodic fevers, food intolerance, projectile vomiting, and chronic constipation

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Participant 159

 

Female, age 8, with intractable seizures, large head size (macrocephaly), global developmental delay, and abnormal posturing due to involuntary muscle contractions (dystonia) caused by a variant in the PPFIA3 gene

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