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Register – published entries

Year of birthgenevariantSymptomscountryFederal StateCity
2014 Timm8A [131G>A];[0] Auditory neuropathy, cochlear implant, mild tremor, psychiatric symptoms, ADHD, ASD Germany Baden-Württemberg Freiburg im Breisgau
1994 TIMM8A [131G>A];[0] Auditory neuropathy, psychiatric symptoms, unilateral tremor, ataxia, visual field restriction, unsteady gait Germany Baden-Württemberg Freiburg
2005 TIMM8A I do not know the answer Hearing loss, dystonia USA Melbourne, Florida
2013 Timm8A C.1A>T Auditory Neuropathy USA SHERWOOD
2023 deletion Hearing Loss Ireland DUBLIN
2014 Tp(Gln34ter) pathogenic variant Deafness, Dystonia, Dysplasia, Autism, Speech problems, Rapid Decline, Swallowing problems Wales UK Cardiff
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