chromosome 15q11-q13 duplication syndrome
ORPHA: 238446
Overview
genetic disorder
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 15q11-q13 duplication syndrome, sourced from HPO and Orphanet clinical annotations.
Compulsive behaviorsDelayed speech and language developmentIntellectual disabilityHypotoniaGlobal developmental delayAttention deficit hyperactivity disorderAutismSeizureApraxiaClinodactyly of the 5th fingerMacrocephalyEpicanthusMask-like faciesDownslanted palpebral fissuresAtaxiaJoint hypermobilityShort statureFinger syndactylyAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:238446chromosome 15q11-q13 duplication syndrome
| Orphanet | ORPHA:238446 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO