mosaic trisomy 17
ORPHA: 1711
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 mosaic trisomy 17, sourced from HPO and Orphanet clinical annotations.
MicrocephalyMicroretrognathiaHypertelorismHearing impairmentDelayed speech and language developmentSingle umbilical arteryIntellectual disabilitySeizureHypotoniaGlobal developmental delayCerebellar hypoplasiaIntrauterine growth retardationVentricular septal defectAttention deficit hyperactivity disorderPostnatal growth retardationInguinal herniaCystic hygromaVentriculomegalyScoliosisLower limb asymmetry
Classification & Codes
Orphanet Code
ORPHA:1711mosaic trisomy 17
| Orphanet | ORPHA:1711 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO