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16p11.2p12.2 microduplication syndrome

ORPHA: 261204

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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 16p11.2p12.2 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.

HypospadiasCleft palateMicrocephalyMyopiaPsychosisAutismPectus excavatumIntellectual disabilitySeizureGlobal developmental delayDystoniaLanguage impairmentAttention deficit hyperactivity disorderSchizophrenia

Classification & Codes

Orphanet Code

ORPHA:261204
16p11.2p12.2 microduplication syndrome
OrphanetORPHA:261204
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO