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Diagnostic odyssey timeline of the patient. The figure shows the different stages that this patient has undergone since the appearance of the first symptoms until a precise diagnosis has been achieved. Once the patient is given a diagnosis, the main challenge is to develop a precision treatment.
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At the same time, the UPiD-UPhD and the genetic mechanism responsible for the disease in this patient, as well as the clinical consequences of this condition, were reported to the Dysmorphology/Neuropediatrics Service of the Complejo Hospitalario Universitario de Albacete, putting an end to 13 years of diagnostic odyssey (Figure 1).