UDN

Solving Medical Mysteries
Through Team Science

Participant 123

 

Female, age 2 with global developmental delay, brain abnormalities, abnormal head movements, and trembling during precise movement (intention tremor)

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Participant 122

 

Male, age 5 with delayed gastric emptying (gastroparesis), episodes of low blood sugar and high ketones (ketotic hypoglycemia), kidney abnormalities, gait disturbance, and high blood pressure (hypertension)

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Participant 121

 

Male, age 4 with global developmental delay, decreased muscle tone (hypotonia), delayed brain development (delayed myelination), visual impairment, and a large head size (macrocephaly)

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Participant 120

 

Female, age 2 with seizures, profound global developmental delay, involuntary movements (chorea), and elevated serum pipecolic acid

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Participant 119

 

Male, age 16 with weak and brittle bones (osteoporosis), immune system abnormalities (antinuclear antibody positivity), and type 1 diabetes mellitus

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Participant 118

 

Female, age 18 with seizures, severe intellectual disability, regression, and abnormal brain findings

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Participant 117

 

Female, age 16 with intellectual disability, seizures, and brain and skeletal abnormalities (craniosynostosis, congenital hip and knee dislocation, hydrocephalus with an Arnold-Chiari type I malformation)

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Participant 116

 

Female, age 10 with Turner syndrome and an undiagnosed neurological condition

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Participant 115

 

Male, age 39 with involuntary muscle contractions (dystonia), difficulty speaking (dysphonia), and abnormal eye movements (saccadic smooth pursuit)

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Participant 114

 

Male, age 10 with severe global developmental delay, seizures, and aggressive behavior

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