infantile-onset autosomal recessive nonprogressive cerebellar ataxia

MeSH: C537312ORPHA: 284332

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 infantile-onset autosomal recessive nonprogressive cerebellar ataxia, sourced from HPO and Orphanet clinical annotations.

Progressive cerebellar ataxiaDelayed speech and language developmentSpasticityDysarthriaGlobal developmental delayCerebellar atrophyGait disturbanceGeneralized hypotoniaDysmetriaHyperreflexiaPes planusBroad-based gaitClumsinessBabinski signShort statureCerebellar vermis atrophyProgressive gait ataxiaIntention tremor

Classification & Codes

MeSH Code

C537312

Orphanet Code

ORPHA:284332

infantile-onset autosomal recessive nonprogressive cerebellar ataxia

MeSH	`C537312`
Orphanet	`ORPHA:284332`
Treatments	0 drug(s)
Symptoms on record	18 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO