Composed of 13 medical and research centers in the United States, the UDN is always striving for new breakthroughs in the detection and diagnosis of medical conditions. Our collaborative approach allows us to bridge the gap between clinical care and research and set the stage for groundbreaking new discoveries in the field of rare disease.READ MORE
When the patient was in his early 20s, he started having episodes that involved shaking, vacant staring, and “shutting down” where he could not respond with any words other than “yes,” even when he wanted to say no. These episodes would last about an hour. Afterwards he would be very ... read more
As an infant, the patient had low muscle tone (hypotonia) and was not meeting developmental milestones. She started wearing hearing aids at the age of 17 months due to hearing loss (sensorineural) and was diagnosed with cataracts at 2 years old. She had one seizure at 6 years old, but ... read more
The patient was born with heart defects (atrial septal defect, ventricular septal defect) and a cleft palate. Shortly after birth, he was noticed to have different facial features, including a triangular face, eye folds (epicanthal folds), decreased creases on his hands and feet, and three bones in his thumbs instead ... read more
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