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Results 81 - 90 of 95 for Intellectual "disability," autosomal recessive 11
  1. ZFYVE26 gene 
    ... This condition is characterized by progressive movement problems, intellectual disability, and vision problems. Many of the ZFYVE26 gene ... encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum ...
    https://medlineplus.gov/genetics/gene/zfyve26 - Genetics
  2. Mucolipidosis III gamma 
    ... cell. GNPTG 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/mucolipidosis-iii-gamma - 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. Andermann syndrome 
    ... syndrome. SLC12A6 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/andermann-syndrome - Genetics
  5. 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
  6. Knobloch syndrome 
    ... symptoms. COL18A1 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/knobloch-syndrome - Genetics
  7. Triple A syndrome 
    ... individuals. AAAS 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/triple-a-syndrome - Genetics
  8. SRD5A3-congenital disorder of glycosylation 
    ... tissues. SRD5A3 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/...d5a3-congenital-disorder-of-glycosylation - Genetics
  9. Free sialic acid storage disorder 
    ... protein. SLC17A5 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/.../free-sialic-acid-storage-disorder - Genetics
  10. Mucopolysaccharidoses From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Carbohydrate Metabolism Disorders/Specifics ... Carbohydrate Metabolism Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes ...
    https://www.ninds.nih.gov/.../disorders/mucopolysaccharidoses - External Health Links
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