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9q31.1q31.3 microdeletion syndrome

ORPHA: 401923

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 9q31.1q31.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

Mandibular prognathiaBroad nasal tipShort neckShort claviclesTapered fingerMild intellectual disabilityDilated cardiomyopathyBicuspid aortic valveAortic regurgitationAbnormal facial shapeHighly arched eyebrowCervical kyphosisHypercholesterolemiaShort statureType II diabetes mellitusMild global developmental delayBroad chinFlat faceOverweightRenovascular hypertensionThick hairSmall hand

Classification & Codes

Orphanet Code

ORPHA:401923
9q31.1q31.3 microdeletion syndrome
OrphanetORPHA:401923
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
9q31.1q31.3 microdeletion syndrome | OrphanDrug