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| Hereditary Neuropathy v2.5 | ZC4H2 |
Sangavi Sivagnanasundram gene: ZC4H2 was added gene: ZC4H2 was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZC4H2 were set to 40443119 Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, MONDO:0010758 Review for gene: ZC4H2 was set to GREEN Added comment: PMID 40443119 reports five individuals with X‑linked ZC4H2 loss‑of‑function variants presenting with an early-onset complex phenotype including ID and neuropathy. The presence of neuropathy was confirmed via EMG. Sources: Literature |
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