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Results 11 - 20 of 26 for Intellectual "disability," autosomal recessive 33
  1. Periventricular heterotopia 
    ... usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) and movement ... in the ARFGEF2 gene is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/periventricular-heterotopia - Genetics
  2. Hypermethioninemia 
    ... show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills ... patterns. This condition is usually inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/hypermethioninemia - Genetics
  3. Arginine:glycine amidinotransferase deficiency 
    ... People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop ... brain. GATM This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  4. Aminoacylase 1 deficiency 
    ... have movement problems, reduced muscle tone (hypotonia), mild intellectual disability, and seizures. However, some people with aminoacylase 1 ... deficiency. ACY1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency - Genetics
  5. Purine nucleoside phosphorylase deficiency 
    ... have neurological problems, which may include developmental delay, intellectual disability, difficulty with balance and coordination (ataxia), and muscle ...
    https://medlineplus.gov/...urine-nucleoside-phosphorylase-deficiency - Genetics
  6. Propionic acidemia 
    ... and go over time. Some affected children experience intellectual disability or delayed development. In children with this later- ... PCCA PCCB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/propionic-acidemia - Genetics
  7. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically ... CCFDN. CTDP1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  8. 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
  9. Zellweger spectrum disorder 
    ... liver dysfunction, developmental delay, and some degree of intellectual disability. Most people with the intermediate form survive into ... PEX5 PEX6 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics
  10. Carbamoyl phosphate synthetase I deficiency 
    ... stressors. They may also have delayed development and intellectual disability.In some people with carbamoyl phosphate synthetase I ... deficiency. CPS1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency - Genetics
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