15q14 microdeletion syndrome

ORPHA: 261190

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism

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 15q14 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaAbnormality of the dentitionCleft palateMicrocephalyLong facePointed chinSmooth philtrumShort philtrumNarrow foreheadLong philtrumLow-set earsProminent nasal bridgeConvex nasal ridgeDeeply set eyeAutismAcneIntellectual disabilitySeizureGlobal developmental delayLaryngomalaciaAtrial septal defectScoliosisImmunodeficiencyKyphosisShort statureBiparietal narrowingDelayed speech and language developmentVentricular septal defect

Classification & Codes

Orphanet Code

ORPHA:261190

15q14 microdeletion syndrome

Orphanet	`ORPHA:261190`
Treatments	0 drug(s)
Symptoms on record	28 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO