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| Hereditary neuropathy or pain disorder v8.9 | OGDH |
Alexander Rossor gene: OGDH was added gene: OGDH was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: OGDH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OGDH were set to 42266417 Phenotypes for gene: OGDH were set to peripheral neuropathy; cerebellar ataxia; optic neuropathy Mode of pathogenicity for gene: OGDH was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: OGDH was set to AMBER Added comment: Only two families described so far Sources: Expert list |
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