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| Hereditary Neuropathy v2.10 | NRCAM |
Sangavi Sivagnanasundram gene: NRCAM was added gene: NRCAM was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRCAM were set to 36606341; 35108495 Phenotypes for gene: NRCAM were set to neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MONDO:0859236 Review for gene: NRCAM was set to GREEN Added comment: Multiple individuals have been reported with biallelic variants in this gene, which cause a complex neurodevelopmental phenotype with affected individuals presenting with a range of neuromuscular and skeletal abnormalities. At least 3 unrelated families with different rare homozygous variants in NRCAM have been reported with peripheral neuropathy. Sources: Literature |
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