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Mental "retardation," "X-linked," syndromic 13
- ... X-linked traits to their sons. MRXS13 PPMX X-linked mental retardation, syndromic 13 Genetic Testing Registry: Rett syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome National Organization for ...
- ... RE, Undlien DE, Stromme P. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Citation on PubMed or Free article on PubMed ...
- ... CpG-BINDING PROTEIN 2; MECP2 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13 NCBI Gene ClinVar Adkins NL, Georgel PT. MeCP2: structure and function. Biochem Cell Biol. 2011 Feb;89(1):1-11. doi: ... by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat ...
- ... linked intellectual deficit, Najm type Genetic Testing Registry: Syndromic X-linked intellectual disability Najm type CASK-Related Disorders National Organization for ...
- ... syndrome, which is a form of X-linked intellectual disability. However, researchers speculate that it may actually be part of the same disease spectrum as Cornelia de ... NCBI Gene ClinVar Deardorff ...