congenital disorder of glycosylation Ij
ORPHA: 86309
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 Ij, sourced from HPO and Orphanet clinical annotations.
Axial hypotoniaEpileptic encephalopathyBrain imaging abnormalityHearing impairmentAtaxiaTremorAbsent speechDecreased fetal movementFetal akinesia sequenceAkinesiaStroke-like episodeInability to walkHead-bangingStereotypical body rockingDevelopmental cataractSeizureFailure to thriveModerate intellectual disabilityHypsarrhythmiaElevated circulating hepatic transaminase concentrationFloppy infantSevere intellectual disabilityNeurodevelopmental delayMicrocephalyAstigmatismStrabismusRod-cone dystrophyExotropiaNystagmusOptic atrophyNyctalopiaAutismAggressive behaviorDelayed speech and language developmentOsteoporosisHypertrichosisThickened skinArachnodactylyHyporeflexiaHypertoniaAbnormal cerebellum morphologyCerebellar hypoplasiaFlexion contractureProlonged QT intervalAnemiaReduced antithrombin III activityHypoplasia of the corpus callosumPulmonary hypoplasiaCerebral cortical atrophyGeneralized myoclonic seizureIntracranial hemorrhageHepatomegalyGlobal brain atrophyScoliosisInverted nipplesCNS hypomyelinationReduced protein S activityLipodystrophySkin dimpleEEG with generalized slow activityEpileptic spasmFocal motor seizureFeeding difficultiesAnasarcaCamptodactylyDiffuse optic disc pallorOcular melanocytosisClinodactylyEmotional dearth
Classification & Codes
Orphanet Code
ORPHA:86309congenital disorder of glycosylation Ij
| Orphanet | ORPHA:86309 |
| Treatments | 0 drug(s) |
| Symptoms on record | 69 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO