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congenital disorder of glycosylation Ix

ORPHA: 370924

Contents

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

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 Ix, sourced from HPO and Orphanet clinical annotations.

MicrocephalyIntellectual disabilitySeizureGlobal developmental delayCerebellar atrophyGeneralized hypotoniaFailure to thriveFeeding difficultiesAbnormal glycosylationCryptorchidismSmall scrotumMicropenisAbnormality of the genital systemOptic atrophyIntrauterine growth retardationThrombocytopeniaRespiratory distress

Classification & Codes

Orphanet Code

ORPHA:370924
congenital disorder of glycosylation Ix
OrphanetORPHA:370924
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO