intellectual disability-hyperkinetic movement-truncal ataxia syndrome

ORPHA: 369847

Contents

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

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 intellectual disability-hyperkinetic movement-truncal ataxia syndrome, sourced from HPO and Orphanet clinical annotations.

CataractIntellectual disabilityGlobal developmental delayGait disturbanceChoreaTruncal ataxiaHyperkinetic movementsScoliosisMyopathyMyalgiaLimb-girdle muscular dystrophyExercise-induced muscle fatigueProgressive proximal muscle weaknessStrabismusMyopiaSeizureCerebral atrophyRestrictive ventilatory defectRight ventricular dilatationFloppy infant

Classification & Codes

Orphanet Code

ORPHA:369847

intellectual disability-hyperkinetic movement-truncal ataxia syndrome

Orphanet	`ORPHA:369847`
Treatments	0 drug(s)
Symptoms on record	20 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO