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

Ebony is undiagnosed


September 26, 2022

Ebony is a 9-year-old girl with global developmental delay. She has particular challenges with spoken language and only has very limited speech …

Alina is undiagnosed


September 26, 2022

This 5 year old girl was born with multiple severe medical problems and has required many operations and intensive supportive care. She remains …

Agustin is undiagnosed


July 19, 2022

2 months old developed severe early generalized dystonia, associated with a severe global delay in psychomotor development and hypotonia. Extensive …

Leonardo is undiagnosed


October 17, 2021

Neurological issues with hypertonia in arm & legs and hypotonia in the trunk and aspirates. Developmental delay and cannot sit, roll, walk, talk etc.

Lykke is undiagnosed


July 6, 2021

Bad balance and stiff and clumsy. Sensitive to sounds and smells, frequent vomiting, mode swings. Temperature regulation is impaired. Thin arms and …

Felicia is undiagnosed


May 12, 2021

Grave developmental disorder (mental level equivalent to about a 1-year-old level. Soft limbs, cannot stand up or move without aiding devices. She …

Edwin is Undiagnosed


April 9, 2021

Spasms in arms and legs, is very stiff. Involentary movements, he can not sit or move. He is having difficult to grip things, harder with the left …

Stella is now diagnosed!


April 8, 2021

Stella received a diagnosis of Bryant-Li-Bhoj neurodevelopmental syndrome 1 (OMIM #619720)

Astor is now diagnosed!


February 13, 2021

Astor received a diagnosis of Noonan syndrome 12 (OMIM #618624)

Ned is now diagnosed!


July 5, 2020

Ned is diagnosed with TRIO-related condition (OMIM #617061)

Marc is undiagnosed


July 4, 2020

Arthrogryposis multiplex congenita (multiple contractures) including clubfeet, spina bifida (sacral), congenital hypotonia, congenital scoliosis, …

Jinn is undiagnosed


July 3, 2020

Mild intellectual disability