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Results 11 - 17 of 17 for Intellectual "disability," autosomal recessive 63
  1. Dihydropyrimidine dehydrogenase deficiency 
    ... have neurological problems such as recurrent seizures (epilepsy), intellectual disability, a small head size (microcephaly), increased muscle tone ( ... DPYD Dihydropyrimidine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...ihydropyrimidine-dehydrogenase-deficiency - Genetics
  2. Alpha-mannosidosis 
    ... mannosidosis. MAN2B1 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/alpha-mannosidosis - Genetics
  3. 3MC syndrome 
    ... COLEC11 MASP1 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/3mc-syndrome - Genetics
  4. Cerebral folate transport deficiency 
    ... infancy. FOLR1 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/.../cerebral-folate-transport-deficiency - Genetics
  5. 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
  6. RELN gene 
    ... Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  7. 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
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