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Results 1 - 10 of 49 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. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  7. 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
    https://www.mda.org/disease/limb-girdle-muscular-dystrophy - External Health Links
  8. 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
  9. 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
  10. 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
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