distal 7q11.23 microduplication syndrome

ORPHA: 261102

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 distal 7q11.23 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.

Delayed speech and language developmentMild intellectual disabilityAortic aneurysmCryptorchidismAutistic behaviorAnxietyCongenital diaphragmatic herniaHypotoniaAttention deficit hyperactivity disorderHydrocephalusPatent ductus arteriosusChiari malformationFrontoethmoidal encephaloceleBenign neoplasm of the central nervous system

Classification & Codes

Orphanet Code

ORPHA:261102
distal 7q11.23 microduplication syndrome
OrphanetORPHA:261102
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO