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| Mitochondrial disorders v1.454 | STXBP1 | Sarah Leigh Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4 612164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.454 | STXBP1 | Sarah Leigh Publications for gene: STXBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | STXBP1 | Sarah Leigh reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Epileptic encephalopathy, early infantile, 4 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | STXBP1 |
Sarah Leigh gene: STXBP1 was added gene: STXBP1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: STXBP1 was set to |
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