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Hearing "loss," autosomal recessive 125
- ... distinguished by their pattern of inheritance: autosomal dominant, autosomal ... loss and hearing loss beginning early in life. Retinitis pigmentosa is ...
- ... leukoencephalopathy. CLCN2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. 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 ...
