congenital disorder of glycosylation Ig
ORPHA: 79324
Overview
human disease
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 Ig, sourced from HPO and Orphanet clinical annotations.
Premature birthTalipes equinovarusSmall nailSandal gapThrombocytopeniaRecurrent hypoglycemiaAbnormal facial shapeGastroesophageal refluxHypoplasia of the corpus callosumVentriculomegalyLow posterior hairlineCavum septum pellucidumScoliosisElevated circulating hepatic transaminase concentrationShort long boneUlnar deviation of the wristHypoalbuminemiaHypocholesterolemiaClinodactyly of the 5th fingerProximal placement of thumbOverlapping fingersPosterior plagiocephalySevere global developmental delayGastrostomy tube feeding in infancyMidface retrusionAbnormal bone ossificationCamptodactylyDelayed myelinationWidened cerebral subarachnoid spaceDecreased circulating serum insulin-like growth factor 1 concentrationLong fingersAbnormal circulating IgA concentrationAbnormal circulating IgM concentrationBrain imaging abnormalityComplete or near-complete absence of specific antibody response to tetanus vaccinePartial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccineEdemaPolyhydramniosPatent ductus arteriosusPatent foramen ovaleIntestinal malrotationHyponatremiaInverted nipplesAbnormal adipose tissue morphologyMuscular ventricular septal defectSepsisBiventricular hypertrophyAbnormal circulating enzyme concentration or activityAbnormality of the genitourinary systemAbnormality of the coagulation cascadeProgressive microcephalyDelayed speech and language developmentAbnormal peripheral nervous system morphologyIntellectual disabilityHypotoniaFailure to thriveReduced factor XI activityMorphological central nervous system abnormalityDelayed gross motor developmentRecurrent respiratory infectionsChronic rhinitisProlonged partial thromboplastin timeReduced protein S activityReduced protein C activityRecurrent pneumoniaProlonged prothrombin timeDecreased total B cell countFeeding difficultiesReduced antithrombin antigenRecurrent pharyngitisRecurrent ear infectionsAbnormal circulating IgG concentrationCryptorchidismHypospadiasMicropenisThin upper lip vermilionLong faceEpicanthusShort philtrumMicrognathiaAbnormal pinna morphologySensorineural hearing impairmentProminent nasal bridgeWide noseAbnormality of the eyeStrabismusRetinal detachmentSeizureGeneralized hypotoniaPachygyriaCerebellar hypoplasiaIntrauterine growth retardationRedundant skin
Classification & Codes
Orphanet Code
ORPHA:79324congenital disorder of glycosylation Ig
| Orphanet | ORPHA:79324 |
| Treatments | 0 drug(s) |
| Symptoms on record | 93 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO