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Features include common findings: Microcephaly, Long philtrum, Synophrys, and Broad ribs and others; and sometimes findings: Cleft palate, Proptosis, Myopia, and Hirsutism and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 5 | Joint dislocation, Joint hypermobility, Short long bone |
Biomarker and diagnostic research for XYLT1-congenital disorder of glycosylation has been reported in the published literature.
Phenotype severity distribution: 23 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for XYLT1-congenital disorder of glycosylation.
202 publications have been identified in PubMed for XYLT1-congenital disorder of glycosylation. Kisho has analyzed 149 by research type. Research spans Review / Meta-Analysis (48%), Basic Science / Preclinical (40%), and Diagnostic / Biomarker (4%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 71 | 48% |
Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 2:34 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about XYLT1-congenital disorder of glycosylation
Head and neck
3 |
Microcephaly, Cleft palate, Relative macrocephaly |
Growth and development | 2 | Growth delay, Short stature |
Skin | 1 | Soft, doughy skin |
Digestive system | 1 | Enlarged liver (hepatomegaly) |
Brain and nerves | 1 | Moderate intellectual disability |
Laboratory research |
60 |
40% |
Testing and diagnosis research | 6 | 4% |
Disease patterns and progression | 6 | 4% |
Patient case studies | 4 | 3% |
New treatment approaches | 2 | 1% |
Wang T (2026). [PMID: 41808328](https://pubmed.ncbi.nlm.nih.gov/41808328/). *Ann Med*. [Review / Meta-Analysis]
Weger M (2026). [PMID: 41644694](https://pubmed.ncbi.nlm.nih.gov/41644694/). *Nat Metab*. [Basic Science / Preclinical]
Yi L (2026). [PMID: 41264770](https://pubmed.ncbi.nlm.nih.gov/41264770/). *Protein Cell*. [Review / Meta-Analysis]
Zhu N (2026). [PMID: 41177858](https://pubmed.ncbi.nlm.nih.gov/41177858/). *Sci China Life Sci*. [Basic Science / Preclinical]
Johannes L (2026). [PMID: 41173705](https://pubmed.ncbi.nlm.nih.gov/41173705/). *Trends Cell Biol*. [Review / Meta-Analysis]
Tawfik CA (2026). [PMID: 41667393](https://pubmed.ncbi.nlm.nih.gov/41667393/). *Ophthalmic Genet*. [Case Report / Case Series]
Lu X (2026). [PMID: 41963305](https://pubmed.ncbi.nlm.nih.gov/41963305/). *Blood Cancer J*. [Review / Meta-Analysis]
Ünsal Y (2026). [PMID: 39975416](https://pubmed.ncbi.nlm.nih.gov/39975416/). *J Clin Res Pediatr Endocrinol*. [Review / Meta-Analysis]
Yang W (2025). [PMID: 41187059](https://pubmed.ncbi.nlm.nih.gov/41187059/). *Cell Rep*. [Basic Science / Preclinical]
Du X (2025). [PMID: 39991767](https://pubmed.ncbi.nlm.nih.gov/39991767/). *International journal of medical sciences*. [Review / Meta-Analysis]