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hyperekplexia 2

ORPHA: 3197

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

hyperekplexia that has material basis in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32

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 2, 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:3197
hyperekplexia 2
OrphanetORPHA:3197
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO