X-linked intellectual disability-hypotonia-movement disorder syndrome

ORPHA: 457260

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 X-linked intellectual disability-hypotonia-movement disorder syndrome, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilityMicrocephalyAbnormality of visionAggressive behaviorAutistic behaviorHyperactivitySpasticityGeneralized hypotoniaBroad-based gaitDyskinesiaOrofacial cleftHearing impairmentVisual impairmentPrecocious pubertyAbnormality of skin pigmentationSeizureGlobal developmental delayJoint hypermobilityAbnormal facial shapeHypoplasia of the corpus callosumVentriculomegalyCortical dysplasiaScoliosis

Classification & Codes

Orphanet Code

ORPHA:457260

X-linked intellectual disability-hypotonia-movement disorder syndrome

Orphanet	`ORPHA:457260`
Treatments	0 drug(s)
Symptoms on record	23 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO