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EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Umair M, Ballow M, Asiri A, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Aloraini T, Abdelhakim M, Althagafi AT, Kafkas S, Alsubaie L, Alrifai MT, Hoehndorf R, Alfares A, Alfadhel M. Umair M, et al. Among authors: alyafee y. Clin Genet. 2020 Dec;98(6):555-561. doi: 10.1111/cge.13842. Epub 2020 Sep 15. Clin Genet. 2020. PMID: 32869858 Free PMC article.
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N. Al-Sayed MD, et al. Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075186 Free PMC article.
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Al Tuwaijri A, Alyafee Y, Umair M, Alsubait A, Alharbi M, AlEidi H, Ballow M, Aldrees M, Alam Q, Al Abdulrahman A, Alrifai MT, Alfadhel M. Al Tuwaijri A, et al. Among authors: alyafee y. Mol Genet Genomic Med. 2023 Apr;11(4):e2117. doi: 10.1002/mgg3.2117. Epub 2022 Nov 24. Mol Genet Genomic Med. 2023. PMID: 36426412 Free PMC article.
18 results