5q35 microduplication syndrome
ORPHA: 228415
Overview
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation
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 5q35 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyMyopiaAtypical behaviorIntellectual disabilitySeizureSpecific learning disabilityGrowth delayDelayed skeletal maturationShort stature
Classification & Codes
Orphanet Code
ORPHA:2284155q35 microduplication syndrome
| Orphanet | ORPHA:228415 |
| Treatments | 0 drug(s) |
| Symptoms on record | 9 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO