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chromosome 15q13.3 microdeletion syndrome

MeSH: C567439ORPHA: 199318

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 15q13.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilityGlobal developmental delayMicrocephalyMacrocephalyEpicanthusMacrotiaProtruding earStrabismusDownslanted palpebral fissuresAutismMelanocytic nevusSeizureHypotoniaFrontal bossingClinodactyly of the 5th fingerShort statureProminent nasal tipAttention deficit hyperactivity disorderBipolar affective disorderAbnormal cardiovascular system morphologySchizophrenia

Classification & Codes

MeSH Code

C567439

Orphanet Code

ORPHA:199318
chromosome 15q13.3 microdeletion syndrome
MeSHC567439
OrphanetORPHA:199318
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO