" /> Deafness, Autosomal Recessive 1A - CISMeF





Preferred Label : Deafness, Autosomal Recessive 1A;

NCIt synonyms : DFNB1A;

NCIt definition : An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.;

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30/07/2025


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