2q23.1 microduplication syndrome
ORPHA: 313947
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 2q23.1 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
Wide mouthAbnormality of the outer earAtypical behaviorAutistic behaviorGlobal developmental delayMotor delayPoor speechFloppy infantAbnormality of the dentitionThin upper lip vermilionBulbous noseProminent noseStrabismusLong eyelashesHypotelorismDental crowdingReduced eye contactAbnormality of the handBilateral ptosisAbnormal foot morphologyBroad-based gaitSleep disturbanceIncoordinationHighly arched eyebrowClinodactyly of the 5th fingerProminent nasal tipBroad halluxMidface retrusionLow anterior hairlineShort chinAstigmatismVisual impairmentCafe-au-lait spotSandal gapVomitingGastroesophageal refluxAggressive behavior
Classification & Codes
Orphanet Code
ORPHA:3139472q23.1 microduplication syndrome
| Orphanet | ORPHA:313947 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO