Angelman syndrome due to a point mutation
ORPHA: 411511
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 a point mutation, sourced from HPO and Orphanet clinical annotations.
Wide mouthWidely spaced teethHypopigmentation of the skinSeizureMild intellectual disabilityObesityEEG abnormalityLower limb hyperreflexiaCessation of head growthSecondary microcephalyHypopigmentation of hairIris hypopigmentationFloppy infantHappy demeanorMild microcephalyMandibular prognathiaStrabismusInappropriate laughterAtaxiaGlobal developmental delayDysphagiaPoor suckHeat intoleranceBroad-based gaitGait imbalanceAbnormal speech patternDroolingFlat occiputProtruding tongueFeeding difficultiesAbnormality of movementRecurrent hand flappingTongue thrustingAbnormal eating behavior
Classification & Codes
Orphanet Code
ORPHA:411511Angelman syndrome due to a point mutation
| Orphanet | ORPHA:411511 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO