The deposited data were collected from 148 patients and 133 family members accepted into the Undiagnosed Diseases Network (https://undiagnosed.hms.harvard.edu/). The NIH Common Fund Undiagnosed Disea
To diagnose rare genetic conditions, doctors look at patients' genetic data and a phenotypic profile. A phenotypic profile is a record of all the physical traits of a condition. It uses a list of stan
Oshtoran Syndrome (scientifically known as H63D Syndrome Type-3) is a very rare but insidious and potentially life-threatening multisystem disease. Patients often appear significantly healthier than t
