UDN

Solving Medical Mysteries
Through Team Science

Participant 057

 

Male, age 21 months with weakness of the left side of the body (hemiparesis), seizures, and mast cell accumulation (mastocytosis)

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Participant 056

 

Male, age 30 with GDF11-associated multiple congenital anomalies and intellectual disability

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Participant 055

 

Female, age 12 with undiagnosed ataxia and progressive myoclonic epilepsy

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Participant 054

 

Female, age 11 with features of Multiple pterygium syndrome, Escobar type. Her sister, age 8, is similarly affected. This condition can cause webbing of the skin, especially around the neck, fingers, elbows, and knees. Other symptoms of this condition include restriction of the joints (arthrogryposis) and a sideways curve of the spine (scoliosis). This syndrome is typically caused by mutations in the CHRNG gene, but testing for mutations in this gene has been negative.

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Participant 053

TRIP12

 

Male, age 8 with TRIP12 associated autism with facial dysmorphology

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Participant 052

 

Female, age 5 with global developmental delay, rhythmic and repetitive movements (stereotypic movements), and difficulty feeding

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Participant 051

 

Male, age 4 with Helsmoortel-van der Aa syndrome

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Participant 050

 

Male, age 11 with damage to the nerve that connects the eye to the brain (optic atrophy), drooping eyelids (congenital, bilateral, progressive ptosis), uncontrolled muscle movements (ataxia), and progressive fatigue

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Participant 049

 

Female, age 8 with sudden behavioral change, developmental regression, repetitive speech (echolalia), and brain abnormalities

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Participant 048

tall stature, occipital protuberance, atrial fibrillation

 

Male, age 62 with tall stature, a protruding area at the back of the head (occipital protuberance), atrial fibrillation, fragile and sagging skin, bowel diverticulitis, and chronic diarrhea

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