mild Canavan disease

ORPHA: 314918

Contents

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

Overview

Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development

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 mild Canavan disease, sourced from HPO and Orphanet clinical annotations.

Motor delaySpecific learning disabilityPoor speechMild global developmental delayAbnormal circulating enzyme concentration or activityMacrocephalyRod-cone dystrophyDelayed speech and language developmentSeizureHypotoniaHyperreflexiaPoor head controlUpper motor neuron dysfunctionBabinski signAbnormal basal ganglia MRI signal intensityMild microcephaly

Classification & Codes

Orphanet Code

ORPHA:314918

mild Canavan disease

Orphanet	`ORPHA:314918`
Treatments	0 drug(s)
Symptoms on record	16 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO