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Monogenic hearing loss v2.216 NLRP3 Arina Puzriakova Phenotypes for gene: NLRP3 were changed from Cold-induced autoinflammatory syndrome, familial, 120100; Coldinducedautoinflammatorysyndrome,familial,120100MuckleWellssyndrome,191900CINCAsyndrome,607115 to CINCA syndrome, OMIM:607115; Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Muckle-Wells syndrome, OMIM:191900
Monogenic hearing loss v2.215 NLRP3 Arina Puzriakova Mode of inheritance for gene: NLRP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown