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Intellectual "disability," autosomal recessive 54
- ... 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 ...
- ... usual. Some affected individuals also have delayed development, intellectual ... called autosomal recessive cutis laxa type 3B (ARCL3B, which is also ...
- Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Muscular Dystrophy Association
- ... counselling. Eur J Med Genet. 2011 Sep-Oct;54(5):e471-7. doi: ... inheritance involving a microdeletion in thrombocytopenia-absent radius ...
- ... eyelids (ptosis), involuntary upward-rolling eye movements, and intellectual disabilities. People with TH-deficient infantile parkinsonism may respond ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
