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Results 1 - 5 of 5 for Hearing "loss," autosomal recessive 99
  1. Thiamine-responsive megaloblastic anemia syndrome 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ... Genetic Testing Registry: Megaloblastic anemia, thiamine-responsive, ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
  2. Pendred syndrome 
    ... condition. SLC26A4 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/pendred-syndrome - Genetics
  3. Schindler disease 
    ... disease. NAGA 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/schindler-disease - 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. Woodhouse-Sakati syndrome 
    ... identified. DCAF17 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome - Genetics