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Congenital disorder of glycosylation, type Io

ORPHA: 263494

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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, type Io, sourced from HPO and Orphanet clinical annotations.

Decreased sialylation of O-linked protein glycosylationReduced tendon reflexesMuscle weaknessDilated cardiomyopathyPes planusProfound intellectual disabilityStroke-like episodeElevated circulating hepatic transaminase concentrationBabinski signMuscular dystrophyPelvic girdle muscle weaknessRimmed vacuolesElevated creatine kinase after exerciseCalf muscle hypertrophyChest pain

Classification & Codes

Orphanet Code

ORPHA:263494
Congenital disorder of glycosylation, type Io
OrphanetORPHA:263494
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO