congenital disorder of glycosylation Ie
ORPHA: 79322
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 Ie, sourced from HPO and Orphanet clinical annotations.
SeizureElevated circulating creatine kinase concentrationSecondary microcephalyFloppy infantNeurodevelopmental delayHypertelorismFailure to thriveReduced antithrombin III activityHigh, narrow palateElevated circulating hepatic transaminase concentrationReduced protein S activityReduced protein C activityDelayed myelinationAbnormal dentate nucleus morphologyTrigonocephalyFull cheeksSmooth philtrumMicrognathiaStrabismusRetinopathyDownslanted palpebral fissuresEsotropiaNystagmusOptic atrophyAtaxiaSpasticityCerebellar atrophyEncephalopathyHepatic fibrosisHepatic steatosisHepatosplenomegalyLong halluxSandal gapDiarrheaProminent glabellaCerebral atrophyVentriculomegalyGeneralized myoclonic seizureNail dysplasiaHepatomegalyInverted nipplesExternal genital hypoplasiaMuscular dystrophyDepressed nasal bridgeFlat occiputKnee flexion contracturePontocerebellar atrophyHypoplasia of the frontal lobesLimb undergrowthPeripheral neuropathyTented upper lip vermilionU-Shaped upper lip vermilionGeneralized tonic seizureAtonic seizureEarly onset absence seizuresGastrostomy tube feeding in infancyCamptodactylyAbnormal visual fixationCerebral visual impairment
Classification & Codes
Orphanet Code
ORPHA:79322congenital disorder of glycosylation Ie
| Orphanet | ORPHA:79322 |
| Treatments | 0 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO