hereditary spastic paraplegia 18
MeSH: C567628ORPHA: 209951
Overview
gene (8p11.2) encoding the protein, Erlin-2.
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 18, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGlobal developmental delayHyperreflexiaFlexion contractureDistal muscle weaknessInability to walkElbow flexion contractureKnee flexion contractureAnkle flexion contractureUpper limb hyperreflexiaBilateral wrist flexion contractureWide mouthMacroglossiaSpasticityAbsent speechHypoplasia of the corpus callosumBabinski signHigh palateShort philtrumAbnormal pinna morphologyThick eyebrowSynophrysHorizontal nystagmusSeizureRotary nystagmusDysphagiaImpaired vibration sensation in the lower limbsHand tremorHip contractureSpinal rigidityFlexion contracture of toeNeck joint contractureAnkle clonusAbnormal lumbar spine morphology
Classification & Codes
MeSH Code
C567628Orphanet Code
ORPHA:209951hereditary spastic paraplegia 18
| MeSH | C567628 |
| Orphanet | ORPHA:209951 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO