Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R78 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912, sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055 |