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Results 1 - 10 of 48 for Intellectual "disability," autosomal recessive 27
  1. ALDH18A1 gene 
    ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  2. Osteopetrosis 
    ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a ... 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  3. Tetrahydrobiopterin deficiency 
    ... disrupts normal brain function. These abnormalities underlie the intellectual disability and other characteristic features of the condition. GCH1 PCBD1 PTS QDPR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics
  4. ASPM gene 
    ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often ... disability, and delayed development. More than 80 mutations in ...
    https://medlineplus.gov/genetics/gene/aspm - Genetics
  5. ATP6V0A2 gene 
    ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A ... disability, seizures, or problems with movement that can worsen ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  6. GCH1 gene 
    ... GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. J Inherit Metab Dis. 2004;27(4):455-63. doi: 10.1023/B:BOLI. ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  7. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... on PubMed Gagnon C, Desrosiers J, Mathieu J. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: upper extremity aptitudes, functional independence and social participation. Int J Rehabil Res. 2004 Sep;27(3):253-6. doi: 10.1097/00004356-200409000- ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  8. ACAD9 deficiency 
    ... causing complex I deficiency. Neuromuscul Disord. 2017 May;27(5):473-476. doi: 10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14. Citation on PubMed
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  9. VLDLR-associated cerebellar hypoplasia 
    ... Rare Disorders (NORD) ClinicalTrials.gov ... JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
  10. POLR3B gene 
    ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011.10.003. Epub 2011 Oct 27. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
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