5q14.3 microdeletion syndrome
ORPHA: 228384
Overview
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
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 5q14.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Open mouthShort philtrumBroad foreheadHigh foreheadAnteverted naresStrabismusDeeply set eyeThick eyebrowUpslanted palpebral fissureOptic nerve hypoplasiaAutistic behaviorMotor stereotypyDelayed speech and language developmentSeizureHypotoniaToe syndactylyHypoplasia of the corpus callosumVentriculomegalyAgenesis of cerebellar vermisShort noseFrontal cortical atrophySevere intellectual disabilityFeeding difficultiesAbnormal nervous system morphology
Classification & Codes
Orphanet Code
ORPHA:2283845q14.3 microdeletion syndrome
| Orphanet | ORPHA:228384 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO