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Results 1 - 10 of 24 for Mental "retardation," "X-linked" 14
  1. Renpenning syndrome 
    ... protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  2. HSD17B10 gene 
    ... in the HSD17B10 gene causes a form of X-linked intellectual disability called MRXS10. This disorder is characterized by intellectual ... 7. doi: 10.1086/375116. Epub 2003 Apr 14. Citation on PubMed or Free article on ... retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. ...
    https://medlineplus.gov/genetics/gene/hsd17b10 - Genetics
  3. ARX gene 
    ... Boyle J, Gecz J. Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ... Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002 Apr;30(4): ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  4. Developmental Disabilities (National Library of Medicine)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics
  5. PQBP1 gene 
    ... protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum ...
    https://medlineplus.gov/genetics/gene/pqbp1 - Genetics
  6. MED12 gene 
    ... links epigenetic silencing of neuronal gene expression with x-linked mental retardation. Mol Cell. 2008 Aug 8;31(3):347- ...
    https://medlineplus.gov/genetics/gene/med12 - Genetics
  7. HCFC1 gene 
    ... gene have also been found in individuals with X-linked intellectual disability. These individuals have delayed development and other neurological ... MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder ... Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022. ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  8. Methylmalonic acidemia with homocystinuria 
    ... MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022. ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  9. 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
  10. Menkes syndrome 
    ... hypotonia), sagging facial features, seizures, developmental delay, and ... syndrome (sometimes called X-linked cutis laxa) is a less severe form of ...
    https://medlineplus.gov/genetics/condition/menkes-syndrome - Genetics
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