UDN

Solving Medical Mysteries
Through Team Science

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 birth defects (tetralogy of Fallot, Chiari I malformation, tethered cord)

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Participant 027

absolute iron deficiency anemia

 

Male, age 5, with absolute iron deficiency anemia, behavioral problems, and recurrent infections

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Participant 026

overgrowth

 

Female, age 14, with overgrowth, increased androgen secretion at an early age (premature adrenarche), and heavy and prolonged menstrual periods (menorrhagia)

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Participant 025

 

Female, age 15, with weakness and stiffness in her limbs (spastic paraparesis), uncontrollable muscle contractions (dystonia), and slurred speech (dysarthria) caused by a change in the GNAO1 gene

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Participant 024

developmental delay, seizures

 

Female, age 2, with developmental delay, seizures, vision loss (cortical visual impairment) and a small head size (microcephaly)

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Participant 023

Cataracts

 

Female, age 24, with poor muscle coordination (ataxia), blurred vision (cataracts), intellectual disability, hearing loss (sensorineural), and small, discolored, and easily damaged teeth (amelogenesis imperfecta)

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Participant 022

 

Female, age 22, with short stature, joint contractures, tight and thickened skin, growth hormone deficiency, and restrictive lung disease

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Participant 021

neurodegenerative condition

 

Male, age 28, with a neurodegenerative condition involving weakness, seizures, tremors, & slurred speech

Kaiser Health News story

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Participant 020

Migraines

 

Female, age 44, with a history of migraine headaches, sleep apnea, anxiety, myoclonic jerks, temperature intolerance, arthritis of the hands, and osteoarthritis of the spine

 

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