FOXG1 syndrome
ORPHA: 561854
Overview
medical condition
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 FOXG1 syndrome, sourced from HPO and Orphanet clinical annotations.
Progressive microcephalyStrabismusMotor stereotypyHypotoniaMotor delayGait disturbanceFeeding difficultiesDyskinesiaVisual impairmentAutistic behaviorParoxysmal bursts of laughterReduced eye contactSpasticityChoreoathetosisAbnormal corpus callosum morphologyDystoniaMyoclonusAbsent speechConstipationGastroesophageal refluxBilateral tonic-clonic seizureOrofacial dyskinesiaSleep disturbanceHyperkinetic movementsBruxismExcessive salivationShort statureDecreased body weightFocal-onset seizureSevere postnatal growth retardationSevere global developmental delayDelayed myelinationInfantile spasmsInappropriate cryingAbnormality of movementCognitive impairmentAgenesis of corpus callosumPachygyriaHypoplasia of the corpus callosumDevelopmental regressionPoor speechInability to walkScoliosisKyphoscoliosisAbnormal respiratory system physiologyOptic disc hypoplasiaReduced social responsivenessStatus epilepticusStereotypical hand wringing
Classification & Codes
Orphanet Code
ORPHA:561854FOXG1 syndrome
| Orphanet | ORPHA:561854 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO