UDN

Solving Medical Mysteries
Through Team Science

Participant 204

 

Male, age 71, with elevated creatinine kinase levels, breakdown of muscle tissue (rhabdomyolysis), and discoloration of urine (pigmenturia)

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Participant 203

 

Female, age 5, with short stature, hearing loss, heart differences, gross motor delay, and low muscle tone

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Participant 202

 

Male, age 4, with a history of neonatal abstinence syndrome, global developmental delay, brain malformation (Chiari I malformation), and uncoordinated gait (gait ataxia)

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Participant 201

 

Male, age 5, with global developmental delay, coordination and movement problems (ataxia), and speech delays

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Participant 200

 

Female, age 40, with severe dysfunction of the autonomic nervous system (dysautonomia), sudden drops in blood pressure (vasovagal syncope), and loss of bladder control (neurogenic bladder).

 

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Participant 199

 

Male, age 14, with a weakened immune system (common variable immune deficiency), mitochondrial deficiency (complex I), delayed stomach emptying (gastroparesis), and multiple congenital anomalies.

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Participant 198

 

Female, age 20, with dopamine deficiency and damaged nerves in her hands and feet (peripheral neuropathy) caused by a change in the DNM1L gene.

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Participant 197

 

Female, age 9, with childhood-onset chronic constipation, loss of bladder and bowel control (urinary incontinence and encopresis), and mild global developmental delay.

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Participant 196

 

Male, passed away at 19 months, with poor growth, small head (severe progressive microcephaly), global developmental delay, vision and hearing impairment, autoimmune disease, and brain abnormalities thought to be caused by a complex duplication involving the genes ATAD3B and ATAD3A and ATAD3C.

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Participant 195

 

Male, age 10, with seizures, structural brain abnormalities, and global developmental delay.

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