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Results 1 - 6 of 6 for Intellectual developmental "disorder," autosomal recessive 68
  1. GLUT1 deficiency syndrome 
    ... families, GLUT1 deficiency syndrome 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/glut1-deficiency-syndrome - Genetics
  2. 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
  3. 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
  4. Childhood myocerebrohepatopathy spectrum 
    ... MCHS. POLG 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/.../childhood-myocerebrohepatopathy-spectrum - Genetics
  5. 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
  6. 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