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| Ataxia v2.126 | MYORG |
Sangavi Sivagnanasundram gene: MYORG was added gene: MYORG was added to Ataxia. Sources: Literature Mode of inheritance for gene: MYORG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYORG were set to 39180105; 32451491 Phenotypes for gene: MYORG were set to basal ganglia calcification, idiopathic, 7, autosomal recessive, MONDO:0032673 Review for gene: MYORG was set to GREEN Added comment: PMID 32451491 and 39180105 report 5 families with biallelic MYORG variants causing primary familial brain calcification with cerebellar ataxia, pyramidal signs and dysarthria. Ataxia is a prominent feature of this condition. Sources: Literature |
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