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| Ataxia v2.143 | NALCN |
Bryony Thompson gene: NALCN was added gene: NALCN was added to Ataxia. Sources: Literature Mode of inheritance for gene: NALCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NALCN were set to 41153398; 37469362; 27633718; 25864427 Phenotypes for gene: NALCN were set to congenital contractures of the limbs and face, hypotonia, and developmental delay, MONDO:0014556 Review for gene: NALCN was set to GREEN Added comment: PMID 25864427, PMID 27633718 and PMID 41153398 report 3 individuals from 3 families with heterozygous de novo missense variants in NALCN causing congenital contractures of the limbs and face, hypotonia, developmental delay and cerebellar ataxia. PMID 37469362 reports 1 proband with mild cerebellar atrophy but no ataxia at the time of assessment. Ataxia can be a feature of the condition. Sources: Literature |
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