Erbliche Myopathie (CNM / HMLR)

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Degenerative Myelopathie (DM Exon2)

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Exercise Induced Collapse (EIC)

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Hereditäre Nasale Parakeratose (HNPK)

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Progressive Retinaatrophie (prcd-PRA)

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Retinale Dysplasie (RD/OSD)

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Skeletale Dysplasie 2 (SD 2)

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Adipositas

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Alexanderkrankheit (AxD)

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Cystinurie

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Narkolepsie

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Pyruvatkinase-Defizienz (PK)

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Hyperurikosurie (SLC)

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X-linked Myopathie (XL-MTM)

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Makrothrombozytopenie (MTC)

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Achromatopsie (ACHM-1) (Tagblindheit)

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Maligne Hyperthermie (MH)

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Congenitales myasthenes Syndroms (CMS)

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Myotonia congenita

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