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Results 1 - 9 of 9 for Intellectual developmental "disorder," autosomal recessive 81
  1. Guanidinoacetate methyltransferase deficiency 
    ... CD. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders. Semin Neurol. 2014 Jul;34(3):350-6. ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  2. Carpenter syndrome 
    ... MEGF8 RAB23 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/carpenter-syndrome - Genetics
  3. CLN3 disease 
    ... lysosomes. CLN3 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/cln3-disease - Genetics
  4. 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
  5. 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
  6. Aicardi-Goutières syndrome 
    ... and SAMHD1 genes, it 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/aicardi-goutieres-syndrome - Genetics
  7. CLN6 disease 
    ... adults. CLN6 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/cln6-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
  9. Chromosome 1 
    ... Horn D, Mundlos S. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics