UDN

Solving Medical Mysteries
Through Team Science

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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Participant 027

absolute iron deficiency anemia

 

5-year old boy with absolute iron deficiency anemia

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Participant 026

overgrowth

 

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

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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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