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14q24.1q24.3 microdeletion syndrome

ORPHA: 401935

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 14q24.1q24.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

Thin upper lip vermilionHypertelorismDownslanted palpebral fissuresBrachydactylyMild intellectual disabilityJoint hypermobilityAbnormal heart morphologyShort thumbCryptorchidismEctopic kidneySmooth philtrumLong philtrumProminent nasal bridgeWide nasal bridgeSynophrysVentricular septal defectAtrial septal defectTruncus arteriosusIntestinal malrotationDislocated radial headShort nosePulmonary artery atresiaLimited elbow extension and supinationMidface retrusion

Classification & Codes

Orphanet Code

ORPHA:401935
14q24.1q24.3 microdeletion syndrome
OrphanetORPHA:401935
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO