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: 51

Fenna is undiagnosed


July 2, 2020

Developmental delays. There is still no explanation for the developmental delays, and whether or not the different types of delays are connected. For …

Dex is now diagnosed!


July 1, 2020

Dex is diagnosed with TUBB-related condition (OMIM #191130)

Jonne is undiagnosed


May 1, 2020

Developmental delay of unknown cause

Maudy is undiagnosed


April 30, 2020

Intellectual disability, weakness of neck flexors and distal flexors of fingers. Neuromuscular disease, problems regulating muscle tone. Most likely …

Fleur is undiagnosed


April 29, 2020

Total sclerocornea, microcornea, microphtalmia, wolff-parkinson-white syndrome, asymmetrical brain development, macrocephaly, hypotonia, pulmonary …

Sem is undiagnosed


April 28, 2020

Developmental delay, concern for developmental coordination disorder (DCD), fatigue, food intolerances (wheat, spelt, peanuts)

Merel is undiagnosed


April 27, 2020

Developmental delay, epilepsy, respiratory tract problems

Job is undiagnosed


April 26, 2020

Developmental delay, autism spectrum disorder

Binto is undiagnosed


April 25, 2020

This 31-year-old woman was born of a consanguineous marriage and was seen for pain in distal limbs and walking difficulty.

Masseni is undiagnosed


April 24, 2020

This is a 20-year-old woman born from a consanguineous marriage, who presented at age 5 years wtih difficulty walking and running, and frequent …

Djelika is undiagnosed


April 23, 2020

She presented at age 48 years with by abnormal jerking movements in all 4 limbs. These symptoms worsened progressively making walking difficult with …

Madou is undiagnosed


April 22, 2020

His condition presented at age 45 years with jerking movements in arms and legs while seating and lying. Relatives have noted these movements also …