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| Hereditary Neuropathy v2.2 | ERCC4 |
Sangavi Sivagnanasundram gene: ERCC4 was added gene: ERCC4 was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 38040034; 35699229 Phenotypes for gene: ERCC4 were set to ERCC4-related neuropathy MONDO:0100545 Review for gene: ERCC4 was set to GREEN Added comment: PMID 35699229 reports 8 individuals with a complex neurological disorder (progressive cerebellar syndrome, ataxia, dementia, chorea, spasticity) and biallelic variants in ERCC4. 7 of the reported affected individuals presented with peripheral neuropathy. Sources: Literature |
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