FRAXE intellectual disability

ORPHA: 100973

Contents

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

Overview

FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.

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 FRAXE intellectual disability, sourced from HPO and Orphanet clinical annotations.

AgitationAggressive behaviorCompulsive behaviorsAutistic behaviorDelayed speech and language developmentHyperactivityIntellectual disabilitySpecific learning disabilityIntrauterine growth retardationHoarse voiceClumsinessShort statureProminent ear helixThick vermilion borderRecurrent hand flappingImpulsivityMacrocephalyClinodactyly of the 5th fingerStereotypical body rockingEpicanthusProminent nasal bridge

Classification & Codes

Orphanet Code

ORPHA:100973

FRAXE intellectual disability

Orphanet	`ORPHA:100973`
Treatments	0 drug(s)
Symptoms on record	21 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO