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Results 1 - 6 of 6 for Hearing "loss," autosomal recessive 113
  1. Jervell and Lange-Nielsen syndrome 
    ... 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 ...
    https://medlineplus.gov/.../jervell-and-lange-nielsen-syndrome - Genetics
  2. DOORS syndrome 
    ... unknown. TBC1D24 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 ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  3. Multiple sulfatase deficiency 
    ... deficiency. SUMF1 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 ...
    https://medlineplus.gov/.../condition/multiple-sulfatase-deficiency - Genetics
  4. Mucopolysaccharidosis type III 
    ... NAGLU SGSH This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii - Genetics
  5. Peroxisomal acyl-CoA oxidase deficiency 
    ... deficiency. ACOX1 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 ...
    https://medlineplus.gov/.../peroxisomal-acyl-coa-oxidase-deficiency - Genetics
  6. Joubert syndrome 
    ... TMEM67 TTC21B ZNF423 Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics