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| Hereditary Neuropathy v2.3 | IBA57 |
Sangavi Sivagnanasundram gene: IBA57 was added gene: IBA57 was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to 39227420; 25609768 Phenotypes for gene: IBA57 were set to hereditary spastic paraplegia 74, MONDO:0014644 Review for gene: IBA57 was set to GREEN Added comment: At least three unrelated families with biallelic variants in IBA57 reported with hereditary spastic paraplegia 74 (SP74), characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade. Sources: Literature |
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