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| Likely inborn error of metabolism - targeted testing not possible v2.201 | IBA57 | Arina Puzriakova Phenotypes for gene: IBA57 were changed from ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330; ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | IBA57 |
Ellen McDonagh Added phenotypes ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive for gene: IBA57 Publications for gene IBA57 were changed from PMID: 23462291; 25971455 to 23462291; 25971455 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | IBA57 |
Ellen McDonagh gene: IBA57 was added gene: IBA57 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to PMID: 23462291; 25971455 Phenotypes for gene: IBA57 were set to ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive |
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