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Results 1 - 10 of 18 for Intellectual "disability," autosomal recessive 65
  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. Charcot-Marie-Tooth disease 
    ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS CHARCOT- ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  3. CLPB deficiency 
    ... Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  4. Spastic paraplegia type 15 
    ... Organization for Rare Disorders (NORD) SPASTIC PARAPLEGIA 15, ... SPG11, SPG15, and further genetic heterogeneity. Arch Neurol. 2008 Mar;65(3):393-402. doi: 10.1001/archneur.65. ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
  5. Nonketotic hyperglycinemia 
    ... unclear how these abnormalities contribute to the developmental disability, seizures, breathing ... hyperglycinemia is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/nonketotic-hyperglycinemia - Genetics
  6. 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
  7. 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
  8. Mitochondrial complex I deficiency 
    ... as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary movements (dystonia). ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  9. Spastic paraplegia type 11 
    ... the nerves used for muscle movement (motor neuropathy); intellectual disability; exaggerated reflexes (hyperreflexia) of the lower limbs; speech ... axons. SPG11 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-11 - Genetics
  10. Intestinal pseudo-obstruction 
    ... of intestinal pseudo-obstruction are inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
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