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| Hereditary neuropathy or pain disorder v0.1 | SELENOI |
Ellen McDonagh gene: SELENOI was added gene: SELENOI was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENOI were set to Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals |
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