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Results 1 - 9 of 9 for Hearing "loss," autosomal recessive 120
  1. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... kb ORF. Nat Genet. 2000 Feb;24(2):120-5. doi: 10.1038/72769. Citation on PubMed Gagnon C, Desrosiers J, Mathieu J. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: upper extremity aptitudes, ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  2. Kallmann syndrome 
    ... In several families, Kallmann syndrome has shown an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in ...
    https://medlineplus.gov/genetics/condition/kallmann-syndrome - Genetics
  3. COG5-congenital disorder of glycosylation 
    ... cells. COG5 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/...cog5-congenital-disorder-of-glycosylation - Genetics
  4. Primary ciliary dyskinesia 
    ... SPAG1 ZMYND10 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/primary-ciliary-dyskinesia - Genetics
  5. Tay-Sachs disease 
    ... gangliosidosis. HEXA 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/genetics/condition/tay-sachs-disease - Genetics
  6. Craniofacial microsomia 
    ... rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of a gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  7. 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
  8. Mucopolysaccharidosis type VI 
    ... VI. ARSB 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/mucopolysaccharidosis-type-vi - Genetics
  9. 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