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Results 1 - 8 of 8 for Intellectual developmental "disorder," autosomal recessive 74
  1. Nonketotic hyperglycinemia 
    ... is unclear how these abnormalities contribute to the developmental disability, seizures, breathing ... hyperglycinemia is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/nonketotic-hyperglycinemia - Genetics
  2. Fryns syndrome 
    ... Fryns syndrome appears to be 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/fryns-syndrome - Genetics
  3. 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
  4. Histidinemia 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/genetics/condition/histidinemia - Genetics
  5. Smith-Lemli-Opitz syndrome 
    ... syndrome. DHCR7 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/smith-lemli-opitz-syndrome - Genetics
  6. CLN5 disease 
    ... life. CLN5 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/cln5-disease - Genetics
  7. CLN2 disease 
    ... cells. TPP1 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/cln2-disease - Genetics
  8. CLN1 disease 
    ... life. PPT1 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/cln1-disease - Genetics