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chromosome 3q13.31 deletion syndrome

MeSH: C536808ORPHA: 1621

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 chromosome 3q13.31 deletion syndrome, sourced from HPO and Orphanet clinical annotations.

CryptorchidismAbnormality of the urinary systemAbnormal cranial suture/fontanelle morphologyMacrocephalyEpicanthusHypertelorismLong philtrumWide nasal bridgeAnteverted naresShort neckNarrow chestAbnormality of the handHypotoniaAgenesis of corpus callosumJoint stiffnessWide intermamillary distanceHypoplasia of penis

Classification & Codes

MeSH Code

C536808

Orphanet Code

ORPHA:1621
chromosome 3q13.31 deletion syndrome
MeSHC536808
OrphanetORPHA:1621
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO