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Results 11 - 16 of 16 for Intellectual "disability," autosomal recessive 54
  1. Transcobalamin deficiency 
    ... in their legs (paraparesis), muscle twitches (myoclonus), or intellectual disability.People with transcobalamin deficiency often develop a blood ... problems. TCN2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/transcobalamin-deficiency - Genetics
  2. Andermann syndrome 
    ... gaze palsy).Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some ... syndrome. SLC12A6 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  3. N-acetylglutamate synthase deficiency 
    ... acetylglutamate synthase deficiency may include developmental delay and intellectual disability.In some affected individuals, signs and symptoms of ... deficiency. NAGS This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../n-acetylglutamate-synthase-deficiency - Genetics
  4. Oral-facial-digital syndrome 
    ... associated with brain abnormalities and some degree of intellectual disability.Abnormalities of the oral cavity that occur in ... oral-facial-digital syndrome are inherited in an autosomal recessive pattern, which suggests that both copies of a ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  5. 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
  6. Succinic semialdehyde dehydrogenase deficiency 
    ... deficiency. ALDH5A1 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/...nic-semialdehyde-dehydrogenase-deficiency - Genetics
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