Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
Features include always present findings: Coarse facial features, Thick eyebrow, Wide nasal bridge, and Absent speech and others; and very common findings: Seizure and Global developmental delay. 42 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Seizure, Intellectual disability, Brain shrinkage (cerebral atrophy) |
Head and neck | 4 | Coarse facial features, High palate, Microcephaly |
Muscles | 2 | Low muscle tone (hypotonia), Brain shrinkage (cerebral atrophy) |
Eyes | 2 | Nystagmus, Ocular flutter |
Heart and blood vessels | 2 | Hypertension, Atrial septal defect |
Digestive system | 1 | Gastroesophageal reflux |
Blood and immune system | 1 | Recurrent infections |
Lab test results | 1 | Neonatal hyperbilirubinemia |
Pregnancy and birth | 1 | Neonatal hyperbilirubinemia |
Growth and development | 1 | Intrauterine growth retardation |
SLC35A2 function has not been fully characterized.
SLC35A2-congenital disorder of glycosylation is associated with mutations in the SLC35A2 gene on chromosome X.
Genetic testing for SLC35A2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 8 always present features, 2 very common features, 22 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.
6 publications have been identified in PubMed for SLC35A2-congenital disorder of glycosylation. Research spans Basic Science / Preclinical (83%) and Review / Meta-Analysis (17%).
Itoh K (2025). [PMID: 41008563](https://pubmed.ncbi.nlm.nih.gov/41008563/). *Biomolecules*. [Basic Science / Preclinical]
Risso B (2025). [PMID: 41373710](https://pubmed.ncbi.nlm.nih.gov/41373710/). *Int J Mol Sci*. [Review / Meta-Analysis]
Okamoto N (2025). [PMID: 40191061](https://pubmed.ncbi.nlm.nih.gov/40191061/). *JIMD Rep*. [Basic Science / Preclinical]
Lai D (2025). [PMID: 40418734](https://pubmed.ncbi.nlm.nih.gov/40418734/). *Brain*. [Basic Science / Preclinical]
Jáñez Pedrayes A (2025). [PMID: 40576648](https://pubmed.ncbi.nlm.nih.gov/40576648/). *Cell Mol Life Sci*. [Basic Science / Preclinical]
Lai D (2024). [PMID: 39763953](https://pubmed.ncbi.nlm.nih.gov/39763953/). *bioRxiv*. [Basic Science / Preclinical]
Data assembled from 7 of 12 sources · Last updated Oct 4, 2026, 12:14 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center