congenital disorder of glycosylation Ic
ORPHA: 79320
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 Ic, sourced from HPO and Orphanet clinical annotations.
Abnormal circulating enzyme concentration or activityAbnormality of the nervous systemSeizureAtaxiaHypotoniaFailure to thriveFeeding difficultiesNeurodevelopmental delayMacroglossiaHypertelorismLow-set earsStrabismusAbnormality of the skeletal systemJaundiceAbnormality of the liverReduced factor XI activityAbnormal facial shapeProtein-losing enteropathyScoliosisSkeletal dysplasiaHypoalbuminemiaAbnormality of the coagulation cascadeType I transferrin isoform profileReduced protein S activityReduced protein C activityShortening of all distal phalanges of the fingersReduced antithrombin antigenRod-cone dystrophyRetinal degenerationBrachydactylyCerebellar hypoplasiaDeep venous thrombosisDecreased LDL cholesterol concentrationPuberty and gonadal disordersIncreased circulating androgen concentration
Classification & Codes
Orphanet Code
ORPHA:79320congenital disorder of glycosylation Ic
| Orphanet | ORPHA:79320 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO