8q12 microduplication syndrome
ORPHA: 228399
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 8q12 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
Vesicoureteral refluxNarrow mouthEverted lower lip vermilionBrachycephalyEpicanthusLong philtrumSensorineural hearing impairmentWide nasal bridgeTelecanthusLong palpebral fissureHypotoniaGlobal developmental delayAbnormal cranial nerve morphologyVentricular septal defectAtrial septal defectShort footGastroesophageal refluxHighly arched eyebrowAttention deficit hyperactivity disorderDuane anomaly
Classification & Codes
Orphanet Code
ORPHA:2283998q12 microduplication syndrome
| Orphanet | ORPHA:228399 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO