Angelman syndrome due to paternal uniparental disomy of chromosome 15
ORPHA: 98795
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 paternal uniparental disomy of chromosome 15, sourced from HPO and Orphanet clinical annotations.
Wide mouthWidely spaced teethHypopigmentation of the skinIntellectual disabilitySeizureGlobal developmental delayEEG abnormalityLower limb hyperreflexiaPoor speechHypopigmentation of hairIris hypopigmentationProtruding tongueFeeding difficultiesTongue thrustingMandibular prognathiaDysphagiaPoor suckHeat intoleranceBilateral tonic-clonic seizureBroad-based gaitGait imbalanceAbnormal speech patternCessation of head growthSecondary microcephalyAtypical absence seizureFloppy infantEEG with focal epileptiform dischargesBilateral tonic-clonic seizure with generalized onset
Classification & Codes
Orphanet Code
ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15
| Orphanet | ORPHA:98795 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO