Patients area

The UDNI together with the Wilhelm Foundation will offer undiagnosed patients (adults and children), who have been evaluated at an UDP and still are undiagnosed to share your story.

This is a tiny opportunity to a diagnosis. But if you still are undiagnosed don’t hesitate to take this chance to show all the visitors your medical history and photos. Many of the specialists who visit the UDNI’s website work all day long to solve the undiagnosed diseases and perhaps one of them find your child’s story like one of the doctor’s patient. If so, he will become interested and will contact you or your doctor at the UDP. We can’t promise anything, but this is a new chance to a diagnosis.

This area is under the Wilhelm Foundation responsibility. In this section Wilhelm Foundation will collect some information (phenotypic, genotypic, picture) from undiagnosed rare patients.
For this purpose a dedicated ethics-Informed Assent as well as a UDNI Parental Consent were developed and apporved during the 6th Conference of Undiagnosed Diseases Network International (19-21 June 2018, Naples) by all UDNI Board Members and participants. Before adding information on a patient these consents have to be download and signed by the Responsibles of patient.

Patients must have undergone a specific visit in a dedicated undiagnosed clinical site before being added in the present section.

Results: 52

Lukas is undiagnosed


January 26, 2020

9 year old boy with intractable epilepsy. He can not walk, crawl, speak. He does have different sounds and has involuntary movements of the hands. He …

Sammy is undiagnosed


January 12, 2020

He and older brother are compound heterozygous for two variants in SPNS1 (autophagy).

Benjamin is undiagnosed


January 12, 2020

Benjamin and his younger brother are compound heterozygous for two variants in SPNS1 (autophagy).

Vide is undiagnosed


April 13, 2019

Born w 35. Small for gestational age. Neonatal low glucose. Degeneration of brain white matter during the first months, stable since ~6 months of …