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| Congenital disorders of glycosylation v7.13 | STX5 |
Ida Ertmanska gene: STX5 was added gene: STX5 was added to Congenital disorders of glycosylation. Sources: Literature Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX5 were set to 34711829 Phenotypes for gene: STX5 were set to ?Congenital disorder of glycosylation, type IIaa, OMIM:620454 Review for gene: STX5 was set to RED Added comment: PMID: 34711829 Linders et al., 2021 Report of a consanguineous Estonian family with 3 affected sibs, homozygous for STX5: c.163A>G (p.Met55Val), deceased shortly after birth. Unaffected mother confirmed heterozygous for the STX variant, paternal DNA not available. Affected individuals presented withearly fatal multisystem disease, including severe liver disease, skeletal abnormalities and abnormal glycosylation. STX5 is putatively associated with ?Congenital disorder of glycosylation, type IIaa, OMIM:620454 (OMIM accessed 17th Feb 2026). Sources: Literature |
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