hereditary spastic paraplegia 52
ORPHA: 280763
Overview
hereditary spastic paraplegia that has material basis in mutation in the AP4S1 gene on chromosome 14q12
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 hereditary spastic paraplegia 52, 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:280763hereditary spastic paraplegia 52
| 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