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Xp22.3 microdeletion syndrome

ORPHA: 1643

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 Xp22.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

Hypogonadotropic hypogonadismDecreased fertilityPolycystic ovariesMyopiaSecondary amenorrheaSacral dimpleAbnormality of chromosome segregationShort statureEctopic anusOpacification of the corneal stromaAplasia/Hypoplasia affecting the eyeAplasia/Hypoplasia of the skin

Classification & Codes

Orphanet Code

ORPHA:1643
Xp22.3 microdeletion syndrome
OrphanetORPHA:1643
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO