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Results 1 - 10 of 16 for Intellectual "disability," autosomal recessive 54
  1. Aromatic l-amino acid decarboxylase deficiency 
    ... these four neurotransmitters contribute to the developmental delays, intellectual disabilities, abnormal movements, and autonomic nervous system dysfunction seen in people with AADC deficiency. DDC This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  2. Thrombocytopenia-absent radius syndrome 
    ... counselling. Eur J Med Genet. 2011 Sep-Oct;54(5):e471-7. doi: ... inheritance involving a microdeletion in thrombocytopenia-absent radius ...
    https://medlineplus.gov/.../thrombocytopenia-absent-radius-syndrome - Genetics
  3. Tyrosine hydroxylase deficiency 
    ... eyelids (ptosis), involuntary upward-rolling eye movements, and intellectual disabilities. People with TH-deficient infantile parkinsonism may respond ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  4. Costeff syndrome 
    ... people with Costeff syndrome have mild to moderate intellectual disability, many have normal intelligence.Movement problems in people ... production. OPA3 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  5. Polymicrogyria 
    ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  6. Aspartylglucosaminuria 
    ... children usually begin to have delayed speech, mild intellectual disability, and problems coordinating movements. Other features that develop ... spurt resulting in a large head size (macrocephaly).Intellectual disability and movement problems worsen in adolescence. Most people ...
    https://medlineplus.gov/genetics/condition/aspartylglucosaminuria - Genetics
  7. Mucolipidosis type IV 
    ... the first year of life. Affected individuals have intellectual disability, limited or absent speech, difficulty chewing and swallowing, ... IV. MCOLN1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-type-iv - Genetics
  8. Aarskog-Scott syndrome 
    ... syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although the genetic cause ... cell is sufficient to cause the disorder. In autosomal recessive inheritance, both copies of the gene in each ...
    https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome - Genetics
  9. Mucolipidosis III alpha/beta 
    ... half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/ ... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  10. 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
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