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| Adult onset neurodegenerative disorder v9.1 | SYT2 |
Oliver Ziff gene: SYT2 was added gene: SYT2 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYT2 were set to 26519543; 30533528 Phenotypes for gene: SYT2 were set to Neuropathy, distal hereditary motor, OMIM:158590; Progressive muscular atrophy, OMIM:105400 Penetrance for gene: SYT2 were set to Complete Mode of pathogenicity for gene: SYT2 was set to Other Added comment: Presents as a slowly progressive distal motor neuropathy and LMN syndrome mimicking PMA. mimics LMN-predominant MND, necessitating upfront R460.1 screening. Sources: Expert Review, Literature |
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