congenital disorder of glycosylation Id
ORPHA: 79321
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 Id, sourced from HPO and Orphanet clinical annotations.
Abnormal circulating enzyme concentration or activityHypotoniaGlobal developmental delayAbnormal cerebral morphologyRecurrent infectionsAbnormality of the gastrointestinal tractFeeding difficultiesAbnormality of the genitourinary systemMicrocephalyHearing impairmentAbnormality of the noseAbnormal pinna morphologyAbnormality of the eyeAbnormality of the endocrine systemOsteopeniaSeizureDecreased liver functionAbnormality of the respiratory systemAbnormal limb bone morphologyAbnormal cardiovascular system morphologyAbnormality of limbsHypertoniaSpastic tetraparesisDystoniaAbnormality of blood and blood-forming tissuesInverted nipplesBrain atrophyNeural tube defectMacroglossiaAbnormal uvula morphologyHigh palateCataractNystagmusHypopigmentation of the skinDandy-Walker malformationCardiomyopathyHypoplasia of the corpus callosumPulmonary hypoplasiaArthrogryposis multiplex congenitaMetaphyseal chondrodysplasiaLipodystrophyHypoplasia of the ponsSubcortical cerebral atrophyCoarctation of the descending aortic archCerebral white matter atrophy
Classification & Codes
Orphanet Code
ORPHA:79321congenital disorder of glycosylation Id
| Orphanet | ORPHA:79321 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO