intellectual disability-seizures-macrocephaly-obesity syndrome
ORPHA: 369950
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 intellectual disability-seizures-macrocephaly-obesity syndrome, sourced from HPO and Orphanet clinical annotations.
MacroglossiaNarrow mouthThick lower lip vermilionMacrocephalyCoarse facial featuresEpicanthusRound faceHypertelorismMicrognathiaPosteriorly rotated earsHearing impairmentConvex nasal ridgeAstigmatismStrabismusDownslanted palpebral fissuresPtosisThick eyebrowExotropiaPeriorbital fullnessAmblyopiaDelayed eruption of teethAggressive behaviorCompulsive behaviorsDelayed speech and language developmentGlobal developmental delayEnuresisEczematoid dermatitisSeborrheic dermatitisIntellectual disabilitySeizureHemiparesisGeneralized hypotoniaFailure to thriveObesityMitral valve prolapseWolff-Parkinson-White syndromeAbnormal foot morphologyPes planusLarge foreheadConstipationHeat intoleranceHypoplasia of the corpus callosumBroad-based gaitHigh, narrow palateInverted nipplesClinodactyly of the 5th fingerAbnormal dental morphologyUnderdeveloped superior crus of antihelixAbnormality of the pineal glandTongue thrusting
Classification & Codes
Orphanet Code
ORPHA:369950intellectual disability-seizures-macrocephaly-obesity syndrome
| Orphanet | ORPHA:369950 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO