mosaic trisomy 12
ORPHA: 1698
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 12, sourced from HPO and Orphanet clinical annotations.
EpicanthusPosteriorly rotated earsLow-set earsWide nasal bridgeHypotoniaGlobal developmental delayHypertelorismBroad foreheadHearing impairmentShort neckPtosisNystagmusPolyhydramniosAbnormal heart morphologyScoliosisShort statureDepigmentation/hyperpigmentation of skinHerniaLinear Hyperpigmentation along Blaschko's lines
Classification & Codes
Orphanet Code
ORPHA:1698mosaic trisomy 12
| Orphanet | ORPHA:1698 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO