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Hearing "loss," autosomal recessive 111
- ... inner ear and in cardiac muscle, leading to hearing loss and an irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome. KCNE1 KCNQ1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... syndrome. LRP2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... the GJA1 gene has been found to cause autosomal recessive craniometaphyseal dysplasia in a small number of people. ... K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS ...