14q11.2 microduplication syndrome
ORPHA: 261229
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 14q11.2 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentNeurodevelopmental delayMicrocephalyAggressive behaviorIntellectual disabilityGeneralized hypotoniaObesityPolyphagiaAttention deficit hyperactivity disorderEpicanthusHypertelorismMicrognathiaWide nasal bridgeHorizontal nystagmusAutismHypothyroidismAcanthosis nigricansSeizureSlurred speechExaggerated cupid's bowSleep disturbanceHighly arched eyebrowDepressed nasal bridgeFeeding difficulties in infancy
Classification & Codes
Orphanet Code
ORPHA:26122914q11.2 microduplication syndrome
| Orphanet | ORPHA:261229 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO