congenital disorder of glycosylation In
ORPHA: 244310
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 In, sourced from HPO and Orphanet clinical annotations.
SeizureHypotoniaGlobal developmental delayHearing impairmentArthrogryposis multiplex congenitaMicrocephalyVisual impairmentFailure to thriveAbnormal bleedingAbnormality of coagulationAbnormal thrombosisHepatomegalyInverted nipplesShort statureFeeding difficultiesAbnormal posterior cranial fossa morphologyAtaxiaCerebral atrophyCerebral cortical atrophyStroke-like episodeBilateral basal ganglia lesionsHyperintensity of cerebral white matter on MRI
Classification & Codes
Orphanet Code
ORPHA:244310congenital disorder of glycosylation In
| Orphanet | ORPHA:244310 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO