Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program.

doi:10.1002/ajmg.b.33047

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Article

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Dec 2025

Adedipe Dee, Thurm Audrey, Joseph Lisa, Acosta Maria T, Macnamara Ellen F, Chlebowski Colby, Kessler Riley, D'Souza Precilla, Wolfe Lynne, Johnson Jean M, Estwick Tyra, Yang John, Lee Paul R, Murphy Jennifer, Toro Camilo, Markello Thomas, Carter Dennis, Adams David R, Gahl William A, Tifft Cynthia J

Abstract excerpt

The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions. Patients accepted to the program receive a careful review of their medical records and a tailored inpatient evaluation at the NIH Clinical Center in...

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PMID: 40696854
DOI: 10.1002/ajmg.b.33047

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