11p15.4 microduplication syndrome
ORPHA: 300305
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 11p15.4 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorAggressive behaviorDelayed speech and language developmentIntellectual disabilityGlobal developmental delayAbnormal facial shapeSmooth philtrumLong philtrumPosteriorly rotated earsMacrotiaAnteverted naresSynophrysLarge handsSeizureObesityHighly arched eyebrowIncreased overbiteAppendicular hypotonia
Classification & Codes
Orphanet Code
ORPHA:30030511p15.4 microduplication syndrome
| Orphanet | ORPHA:300305 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO