congenital disorder of glycosylation Iu
ORPHA: 329178
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 Iu, sourced from HPO and Orphanet clinical annotations.
Progressive microcephalyMicrognathiaOsteopeniaGlobal developmental delayGeneralized hypotoniaCerebellar hypoplasiaAbsent speechFailure to thriveAbnormal facial shapeMyopathic faciesGeneralized myoclonic seizurePoor head controlScoliosisElevated circulating creatine kinase concentrationType I transferrin isoform profileContractures of the large jointsAbsent smooth pursuitGeneralized clonic seizureEpileptic encephalopathyHigh palateThin upper lip vermilionTrigonocephalyLow anterior hairlineStrabismusHypotelorismOptic atrophyDental malocclusionPolyhydramniosReduced antithrombin III activityDeep philtrumRespiratory distressRecurrent respiratory infectionsHepatomegalyAbnormal periventricular white matter morphologyElevated circulating hepatic transaminase concentrationShort noseExternal genital hypoplasiaEEG with burst suppressionCerebral white matter atrophyNasogastric tube feeding
Classification & Codes
Orphanet Code
ORPHA:329178congenital disorder of glycosylation Iu
| Orphanet | ORPHA:329178 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO