severe intellectual disability and progressive spastic paraplegia
ORPHA: 280763
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 severe intellectual disability and progressive spastic paraplegia, sourced from HPO and Orphanet clinical annotations.
MicrocephalyHypotoniaProgressive spastic paraplegiaSevere intellectual disabilityCoarse facial featuresFacial hypotoniaBulbous noseSpasticityGlobal developmental delayCerebellar atrophyGait disturbanceDystoniaHyperreflexiaCerebral cortical atrophyDroolingSpastic dysarthriaPoor speechWaddling gaitBabinski signShort statureWide mouthHigh palateShort philtrumNarrow foreheadMotor stereotypySeizurePes planusHypoplasia of the corpus callosumAbnormal periventricular white matter morphologyEverted upper lip vermilionOverweightExcessive shynessStrabismusAmblyopiaGeneralized joint hypermobilityGenu recurvatumAcetabular dysplasia
Classification & Codes
Orphanet Code
ORPHA:280763severe intellectual disability and progressive spastic paraplegia
| Orphanet | ORPHA:280763 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO