7p22.1 microduplication syndrome

ORPHA: 314034

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 7p22.1 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.

CryptorchidismAbnormality of the kidneyMacrocephalyHypertelorismAbnormality of the outer earDelayed speech and language developmentAbnormality of the skeletal systemGlobal developmental delayMotor delayAbnormal heart morphologyAbnormal facial shape

Classification & Codes

Orphanet Code

ORPHA:314034
7p22.1 microduplication syndrome
OrphanetORPHA:314034
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
7p22.1 microduplication syndrome | OrphanDrug