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Results 1 - 5 of 5 for Intellectual developmental "disorder," autosomal recessive 76
  1. Autosomal recessive primary microcephaly 
    ... evolutionary findings. Am J Hum Genet. 2005 May;76(5):717-28. doi: 10.1086/429930. Epub 2005 Mar 31. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../autosomal-recessive-primary-microcephaly - Genetics
  2. 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
  3. Leber congenital amaurosis 
    ... TULP1 USP45 Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  4. 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
  5. Donnai-Barrow syndrome 
    ... syndrome. LRP2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome - Genetics