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| Mitochondrial disorders v1.427 | ALDH18A1 | Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from to Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.427 | ALDH18A1 | Sarah Leigh Publications for gene: ALDH18A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | ALDH18A1 | Sarah Leigh reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150, Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | ALDH18A1 |
Sarah Leigh gene: ALDH18A1 was added gene: ALDH18A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: ALDH18A1 was set to |
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