congenital disorder of glycosylation Ii
ORPHA: 79326
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 Ii, sourced from HPO and Orphanet clinical annotations.
Type I transferrin isoform profileAbnormal circulating enzyme concentration or activityMicrocephalyEpicanthusWide nasal bridgeDownslanted palpebral fissuresCataractEsotropiaIris colobomaAbnormality of the nervous systemIntellectual disabilitySeizureGlobal developmental delayAbnormality of coagulationAbnormal facial shapeHypsarrhythmiaSevere global developmental delayHypoplasia of the corpus callosumHepatomegalyCerebral hypomyelinationLateral ventricle dilatationInfantile spasmsWidened subarachnoid spaceAbnormal basal ganglia MRI signal intensityHyperintensity of cerebral white matter on MRI
Classification & Codes
Orphanet Code
ORPHA:79326congenital disorder of glycosylation Ii
| Orphanet | ORPHA:79326 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO