autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

ORPHA: 404493

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 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilitySeizureAbnormal facial shapeAtaxiaBrachycephalyGeneralized hypotonia

Classification & Codes

Orphanet Code

ORPHA:404493

autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

Orphanet	`ORPHA:404493`
Treatments	0 drug(s)
Symptoms on record	6 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO