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| Likely inborn error of metabolism v1.317 | CEP89 | Sarah Leigh reviewed gene: CEP89: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | CEP89 |
Ellen McDonagh gene: CEP89 was added gene: CEP89 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP89 were set to PMID: 23575228 Phenotypes for gene: CEP89 were set to isolated complex IV deficiency, intellectual disability and multisystemic problems |
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