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| Likely inborn error of metabolism - targeted testing not possible v2.250 | MT-RNR1 | Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-RNR1 | Ellen McDonagh Added phenotypes DEAFNESS, AMINOGLYCOSIDE-INDUCED; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; AUDITORY NEUROPATHY; CARDIOMYOPATHY, RESTRICTIVE for gene: MT-RNR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-RNR1 |
Ellen McDonagh gene: MT-RNR1 was added gene: MT-RNR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to DEAFNESS, AMINOGLYCOSIDE-INDUCED; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; AUDITORY NEUROPATHY; CARDIOMYOPATHY, RESTRICTIVE |
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