congenital disorder of glycosylation type II
ORPHA: 79329
Overview
congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with congenital disorder of glycosylation type II, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsGlobal developmental delayAbnormal facial shapeReduced level of N-acetylglucosaminyltransferase IIProgressive microcephalySeizureHypotoniaFailure to thriveOpen mouthDolichocephalyHypertelorismAbnormal earlobe morphologyProminent antihelixConvex nasal ridgeDownslanted palpebral fissuresLong eyelashesDental crowdingPectus excavatumAbnormality of the endocrine systemOsteopeniaHirsutismBrachydactylyGeneralized hypotoniaAbnormal heart morphologyVentricular septal defectPatent ductus arteriosusHydrops fetalisAbnormal bleedingReduced factor XI activityAbnormal scalp morphologyGastroesophageal refluxRespiratory distressHypsarrhythmiaHypoplastic nipplesGastroparesisScoliosisKyphosisInverted nipplesImpaired lymphocyte transformation with phytohemagglutininImpaired platelet aggregationDecreased circulating immunoglobulin concentrationDecreased circulating IgG concentrationCombined immunodeficiencyLow hanging columellaAbnormality of the common coagulation pathwayGastrostomy tube feeding in infancyArrhythmiaFeeding difficultiesStereotypical hand wringingBrain atrophyInfantile spasmsDecreased mitogen-induced T-cell proliferationRecurrent upper and lower respiratory tract infectionsReflex asystolic syncope
Classification & Codes
Orphanet Code
ORPHA:79329congenital disorder of glycosylation type II
| Orphanet | ORPHA:79329 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO