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Angelman syndrome due to imprinting defect in 15q11-q13

ORPHA: 411515

Contents

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

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 Angelman syndrome due to imprinting defect in 15q11-q13, sourced from HPO and Orphanet clinical annotations.

Inappropriate laughterHypopigmentation of the skinSeizureObesityAbnormal facial shapeEEG abnormalityPolyphagiaHypopigmentation of hairIris hypopigmentationFeeding difficulties in infancyFloppy infantDelayed ability to walkHappy demeanorWide mouthMandibular prognathiaAtypical behaviorHyperoralityShort attention spanHyperactivityAtaxiaAbsent speechBroad-based gaitDroolingPoor speechCessation of head growthSleep-wake cycle disturbanceBrain imaging abnormality

Classification & Codes

Orphanet Code

ORPHA:411515
Angelman syndrome due to imprinting defect in 15q11-q13
OrphanetORPHA:411515
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO