spastic paraplegia-severe developmental delay-epilepsy syndrome
ORPHA: 464282
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 spastic paraplegia-severe developmental delay-epilepsy syndrome, sourced from HPO and Orphanet clinical annotations.
SeizureGlobal developmental delayProgressive spastic paraplegiaHypertelorismSensorineural hearing impairmentDeeply set eyeMyopiaRetinal dystrophyDelayed speech and language developmentIntellectual disabilityAtaxiaSpasticityDysarthriaGait disturbanceDystoniaLower limb spasticityGeneralized myoclonic seizureUnsteady gaitWaddling gaitScoliosisDownturned corners of mouthKyphosisHip dislocationAxial hypotoniaExophoriaAbsent pubertal growth spurtUrinary incontinenceMicrocephalyObesityCerebral atrophyBilateral tonic-clonic seizureHypoplasia of the corpus callosumShort staturePuberty and gonadal disordersStructural foot deformityFocal myoclonic seizureDelayed peripheral myelinationCerebral white matter atrophy
Classification & Codes
Orphanet Code
ORPHA:464282spastic paraplegia-severe developmental delay-epilepsy syndrome
| Orphanet | ORPHA:464282 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO