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| Mitochondrial disorders v1.435 | DIAPH1 | Sarah Leigh Phenotypes for gene: DIAPH1 were changed from to Deafness, autosomal dominant 1 124900; Seizures, cortical blindness, microcephaly syndrome 616632 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.435 | DIAPH1 | Sarah Leigh Publications for gene: DIAPH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | DIAPH1 | Sarah Leigh reviewed gene: DIAPH1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27808407, 26912466; Phenotypes: Deafness, autosomal dominant 1 124900, Seizures, cortical blindness, microcephaly syndrome 616632; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | DIAPH1 |
Sarah Leigh gene: DIAPH1 was added gene: DIAPH1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: DIAPH1 was set to |
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