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Results 1 - 10 of 136 for intellectual deficiency
  1. MED13L syndrome 
    ... Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Intellectual disability and distinctive facial features with or without ... Developmental delay-facial dysmorphism syndrome due to MED13L deficiency ... IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT ...
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  2. Prolidase deficiency 
    ... and about 75 percent of people with prolidase deficiency have intellectual disability that may range from mild to severe. ... may also contribute to the skin problems. The intellectual disability that occurs in prolidase deficiency might result from problems in processing neuropeptides, which ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
  3. Gillespie syndrome 
    ... cerebellar ataxia, and mental retardation Aniridia-cerebellar ataxia-intellectual disability Aniridia-cerebellar ataxia-mental deficiency Partial aniridia-cerebellar ataxia-oligophrenia Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  4. Dihydropyrimidinase deficiency 
    ... that occur most often in people with dihydropyrimidinase deficiency are intellectual disability, seizures, and weak muscle tone (hypotonia). An abnormally small head size (microcephaly) and autistic behaviors that affect ... deficiency include backflow of acidic stomach contents into the ...
    https://medlineplus.gov/.../condition/dihydropyrimidinase-deficiency - Genetics
  5. Transcobalamin deficiency 
    ... in their legs (paraparesis), muscle twitches (myoclonus), or intellectual disability.People with transcobalamin deficiency often develop a blood disorder called megaloblastic anemia. ...
    https://medlineplus.gov/genetics/condition/transcobalamin-deficiency - Genetics
  6. UNC80 deficiency 
    ... learned, they are usually retained.People with UNC80 deficiency have profound intellectual disability. Muscle tone is generally weak (hypotonia), but ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  7. Glucose phosphate isomerase deficiency 
    ... with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia). GPI deficiency is a rare cause of hemolytic anemia; its ...
    https://medlineplus.gov/.../glucose-phosphate-isomerase-deficiency - Genetics
  8. Aromatic l-amino acid decarboxylase deficiency 
    ... signs and symptoms typically include developmental delays and intellectual disabilities. Movement disorders are common in people with AADC deficiency. Involuntary movements that can occur in people with ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  9. X-linked creatine deficiency 
    ... Stockler-Ipsiroglu S, van Karnebeek CD. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders. Semin Neurol. 2014 Jul;34(3): ...
    https://medlineplus.gov/.../condition/x-linked-creatine-deficiency - Genetics
  10. Primary coenzyme Q10 deficiency 
    ... abnormalities that can occur in primary coenzyme Q10 deficiency include seizures, intellectual disability, poor muscle tone (hypotonia), involuntary muscle contractions ( ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
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