congenital disorder of glycosylation Iq
ORPHA: 324737
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 Iq, sourced from HPO and Orphanet clinical annotations.
Optic atrophyIntellectual disabilityGlobal developmental delayType I transferrin isoform profileCataractVisual lossColobomaNystagmusAtaxiaAbnormal cerebellum morphologyMicrocytic anemiaAbnormal facial shapeOptic disc hypoplasiaIchthyosisFloppy infantAbnormal brain morphologyRod-cone dystrophyHypothyroidismDecreased response to growth hormone stimulation testPalmoplantar keratodermaSeizureCerebellar atrophyAbnormality of coagulationReduced antithrombin III activityAbnormal cerebellar vermis morphologyKyphosisElevated circulating hepatic transaminase concentrationAbnormal sacrum morphologySpotty hyperpigmentationAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:324737congenital disorder of glycosylation Iq
| Orphanet | ORPHA:324737 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO