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After a thorough workup failed to unveil the explanation for infection, in a lady with a previously not reported phenotype, WGS regarding the proband, her diseased older sister, a mature healthy brother, and their particular parents ended up being done, and possibly pathogenic variations had been analyzed. parotitis, apneas, disappearance for the Moro response, and hypotonia. The proband survived. Her mind MRI showed white matter and basal ganglia ab
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