hyperekplexia 3
ORPHA: 3197
Overview
hyperekplexia that has material basis in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15
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 hyperekplexia 3, sourced from HPO and Orphanet clinical annotations.
AtaxiaSpasticityHypertoniaMyoclonusHyperreflexiaJoint stiffnessGastroesophageal refluxHiatus herniaRigidityFasciculationsMuscle stiffnessAbnormality of movementEsophagitisGait disturbanceUmbilical herniaSleep disturbanceHerniaIntellectual disabilitySeizureJoint dislocationHip dislocation
Classification & Codes
Orphanet Code
ORPHA:3197hyperekplexia 3
| Orphanet | ORPHA:3197 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO