intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
ORPHA: 352530
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-obesity-brain malformations-facial dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Thin upper lip vermilionBrachycephalyMicrocephalyEpicanthusRound faceHypertelorismNarrow foreheadAbnormal pinna morphologyWide nasal bridgeSynophrysGlobal developmental delayCongenital hypothyroidismTapered fingerSeizureHypotoniaCerebellar hypoplasiaObesityAbnormal facial shapeMalignant hyperthermiaHypoplasia of the corpus callosumCerebral cortical atrophyGeneralized myoclonic seizureLarge fleshy earsDownturned corners of mouthClinodactyly of the 5th fingerUnderdeveloped supraorbital ridgesMultifocal cerebral white matter abnormalitiesSevere intellectual disabilityEarly-onset non-progressive night blindnessHorizontal eyebrowAbnormal brain morphology
Classification & Codes
Orphanet Code
ORPHA:352530intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
| Orphanet | ORPHA:352530 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO