congenital disorder of glycosylation Iy
ORPHA: 370927
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 Iy, sourced from HPO and Orphanet clinical annotations.
Abnormality of the coagulation cascadeMicrocephalyIntellectual disabilityGlobal developmental delayGeneralized hypotoniaAbnormal facial shapeWide mouthMacrotiaStrabismusDeeply set eyeWidely spaced teethFailure to thriveVomitingGastroesophageal refluxAbnormality of the gastrointestinal tractAbnormality of upper lip vermillionFeeding difficultiesSeizureHorseshoe kidneyAbnormality of the skeletal systemAbsent septum pellucidumJoint dislocationAbnormality of the cardiovascular systemAbnormality of coagulationHypoplasia of the corpus callosumAbnormal periventricular white matter morphologyScoliosisPatent ductus arteriosus
Classification & Codes
Orphanet Code
ORPHA:370927congenital disorder of glycosylation Iy
| Orphanet | ORPHA:370927 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO