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Results 1 - 5 of 5 for Mental "retardation," "X-linked" 96
  1. Ohdo syndrome, Maat-Kievit-Brunner type 
    ... B, Lacombe D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) ... A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Citation on ...
    https://medlineplus.gov/.../ohdo-syndrome-maat-kievit-brunner-type - Genetics
  2. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... B, Lacombe D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) ... A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Citation on ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  3. CACNA1F gene 
    ... mutation has also been found to cause an X-linked retinal disorder in a large ... disability. The CACNA1F mutation associated with this condition alters ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  4. Cornelia de Lange syndrome 
    ... syndrome. Hum Mutat. 2013 Dec;34(12):1589-96. doi: 10.1002/humu.22430. Epub 2013 Sep 16. Citation on PubMed or Free article on PubMed Central Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  5. SMC1A gene 
    ... expression and mechanism of pathogenicity in probands with X-Linked Cornelia de ... Hum Mutat. 2013 Dec;34(12):1589-96. doi: 10.1002/humu.22430. Epub 2013 Sep ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics