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X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

ORPHA: 85319

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 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.

Coarse facial featuresIntellectual disabilitySeizureGlobal developmental delayGeneralized hypotoniaMultiple joint contracturesProgressive flexion contracturesFeeding difficulties in infancy

Classification & Codes

Orphanet Code

ORPHA:85319
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
OrphanetORPHA:85319
Treatments0 drug(s)
Symptoms on record8 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO