UDN

Solving Medical Mysteries
Through Team Science

Participant 037

hypotonia, seizures

 

Male, age 4 with low muscle tone (hypotonia), seizures (epilepsy), and developmental delay

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Participant 036

 

Male, age 4 with absent speech, low muscle tone (hypotonia), developmental delay, small head size (microcephaly), and short stature

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Participant 035

MGA & TRA2B

 

Male, age 4 with a history of infantile spasms and an undiagnosed metabolic disorder (elevated alanine and lactate)

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Participant 034

weakness, dizziness, & paralysis

 

Female, age 26 with muscle weakness and pain (myalgia), chronic fatigue, exercise intolerance, and severe episodes of weakness, dizziness, and paralysis

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Participant 033

progressive muscle weakness

 

Female, age 17 with muscular dystrophy, limb-girdle, type 2Y

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Participant 032

MT-TL2 ZDHHC9

 

Male, age 5 with developmental delay and abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally)

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Participant 031

IRF2BPL

 

Male, age 6 with developmental regression, hypotonia, difficulty controlling voluntary movements (limb and truncal ataxia), and lack of coordination

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Participant 030

Schnitzler syndrome

 

Male, age 70 with Schnitzler syndrome

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Participant 029

infantile spasms

 

Male, age 4 with seizures (infantile spasms), abnormal MRI findings (delayed myelination, thinning of the corpus callosum), and developmental delay

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Participant 028

hypoglycemia and developmental delay

 

Female, age 8 with very low blood sugar (hypoglycemia), developmental delay, and a history of birth defects (tetralogy of Fallot, Chiari I malformation, tethered cord)

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