Solving Medical Mysteries
Through Team Science

Finding Answers through Sharing

We are always looking for new participants that can help us better understand the medical mysteries plaguing us today. Here, you can learn more about some of our past participants and help us find and connect with others with the same or similar conditions.

If you or someone you know has any of the symptoms or genetic changes listed in these profiles, please contact us.

Each of these pages includes details about our participants. We respect the privacy of all our participants, and sharing information on our site is not a requirement to participate in the study. Only participants who have given us their consent will have information posted to our site.

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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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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