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| Mitochondrial disorders v1.432 | CTBP1 | Sarah Leigh Phenotypes for gene: CTBP1 were changed from to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.432 | CTBP1 | Sarah Leigh Publications for gene: CTBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | CTBP1 | Sarah Leigh reviewed gene: CTBP1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27094857, 29291004; Phenotypes: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | CTBP1 |
Sarah Leigh gene: CTBP1 was added gene: CTBP1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: CTBP1 was set to |
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