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34
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Mental retardation "21," "X-linked"
- ... function and a severe form of Snyder-Robinson X-linked recessive mental ... Cell Mol Life Sci. 2010 Jan;67(1):113-21. doi: 10.1007/s00018-009-0165-5. Epub ...
- ... 13 Genetic Testing Registry: Rett syndrome ... of disease: neurogenetics of MeCP2 deficiency. Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. doi: 10.1038/ncpneuro0148. Citation on PubMed Gonzales ...
- ... doi: 10.1093/hmg/ddr601. Epub 2011 Dec 21. Citation on PubMed ... cause X-linked mental retardation and epilepsy. Nat Genet. 2002 Apr;30(4): ...
- ... Snyder-Robinson syndrome in females have been reported. Mental retardation, X-linked, syndromic, Snyder-Robinson type Snyder-Robinson X-linked mental retardation syndrome Spermine synthase deficiency SRS Genetic Testing Registry: ...
- ... protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum ... 10.1074/jbc.M109.084525. Epub 2010 Apr 21. Citation on PubMed or Free article on PubMed Central
- ... syndrome FXS Marker X syndrome Martin-Bell syndrome X-linked mental retardation and macroorchidism Genetic Testing Registry: Fragile X syndrome ...
- ... in the HSD17B10 gene causes a form of X-linked intellectual disability called MRXS10. This disorder is characterized by intellectual ...
- ... microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each ... intellectual deficit, Najm type Genetic Testing Registry: Syndromic ... Najm type CASK-Related Disorders National Organization for ...
- ... the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and ...
- ... protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum ...