chromosome 17q12 duplication syndrome
ORPHA: 261272
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 chromosome 17q12 duplication syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palateDeeply set eyeGlaucomaMicrophthalmiaSynophrysDelayed speech and language developmentIntellectual disabilitySeizurePolyhydramniosAtrial septal defectToe syndactylyLanguage impairmentCortical dysplasiaTracheoesophageal fistulaAbnormal vertebral morphologyFinger syndactylySelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:261272chromosome 17q12 duplication syndrome
| Orphanet | ORPHA:261272 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO