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Patients area

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.

  • Participant 101

    Participant 101

    Born w 35. Small for gestational age. Neonatal low glucose. Degeneration of brain white matter during the first months, stable since ~6 months of age. Metabolic disease has been suspected since birth

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