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5 Possible Causes for Mutation in the METTL23 Gene

  • Autosomal Recessive Mental Retardation 44

    , caused by mutations in the METTL23 gene.[cags.org.ae] Gene Human Gene Mutation Database (HGMD) METTL23 SNPedia medical, phenotypic, and genealogical associations of SNPs for METTL23 SNP Genotyping and Copy Number Assay Products[genecards.org] Gene view The gene view histogram is a graphical view of mutations across METTL23.[cancer.sanger.ac.uk]

  • Autosomal Dominant Non-Syndromic Intellectual Disability

    Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. Hum. Mol. Genet. 23, 4015–4023 (2014). 52.[nature.com] De novo mutations in moderate or severe intellectual disability. PLoS Genet. 10, e1004772 (2014). 51. Bernkopf, M. et al.[nature.com] Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. Am. J. Hum.[nature.com]

  • Autosomal Recessive Non-Syndromic Intellectual Disability

    Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. Hum. Mol. Genet. 23, 4015–4023 (2014). 52.[nature.com] De novo mutations in moderate or severe intellectual disability. PLoS Genet. 10, e1004772 (2014). 51. Bernkopf, M. et al.[nature.com] Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. Am. J. Hum.[nature.com]

  • X-Linked Non-Syndromic Intellectual Disability

    Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. Hum. Mol. Genet. 23, 4015–4023 (2014). 52.[nature.com] De novo mutations in moderate or severe intellectual disability. PLoS Genet. 10, e1004772 (2014). 51. Bernkopf, M. et al.[nature.com] Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. Am. J. Hum.[nature.com]

  • Coffin-Siris Syndrome

    Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability . Hum. Mol. Genet. 23 , 4015–4023 (2014). 52.[nature.com] De novo mutations in moderate or severe intellectual disability . PLoS Genet. 10 , e1004772 (2014). 51. Bernkopf, M. et al.[nature.com] Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems . Am. J. Hum.[nature.com]

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