Angelman syndrome due to maternal 15q11q13 deletion
ORPHA: 98794
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 maternal 15q11q13 deletion, sourced from HPO and Orphanet clinical annotations.
EEG abnormalityCessation of head growthSecondary microcephalyEEG with abnormally slow frequenciesNeurodevelopmental delayWide mouthStrabismusWidely spaced teethAutistic behaviorShort attention spanInappropriate laughterHyperactivityHypopigmentation of the skinObesityConstipationPoor suckHypoplasia of the corpus callosumAbnormal speech patternDroolingLower limb hyperreflexiaScoliosisFunctional motor deficitFlat occiputHypopigmentation of hairIris hypopigmentationFloppy infantProtruding tongueSevere intellectual disabilityFeeding difficultiesDelayed myelinationHappy demeanorTongue thrustingAbnormal eating behaviorMandibular prognathiaAtaxiaMyoclonusTremorAbsent speechDysphagiaHeat intoleranceBroad-based gaitGait imbalancePoor speechLimitation of movement at anklesShortened sleep phaseMild microcephalyAbnormality of movementRecurrent hand flappingSeizureGlobal developmental delay
Classification & Codes
Orphanet Code
ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion
| Orphanet | ORPHA:98794 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO