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autosomal recessive cerebellar ataxia-blindness-deafness syndrome

MeSH: C537309ORPHA: 95433

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 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-blindness-deafness syndrome, sourced from HPO and Orphanet clinical annotations.

Gait disturbanceHearing impairmentConjunctival telangiectasiaBlindnessNystagmusOptic atrophySensory neuropathyGait ataxiaProgressive cerebellar ataxiaImpaired vibration sensation in the lower limbsHead tremorSpastic dysarthriaCochlear degenerationElevated circulating alpha-fetoprotein concentrationProximal amyotrophySensorimotor neuropathySpinocerebellar atrophyMildly elevated creatine kinase

Classification & Codes

MeSH Code

C537309

Orphanet Code

ORPHA:95433
autosomal recessive cerebellar ataxia-blindness-deafness syndrome
MeSHC537309
OrphanetORPHA:95433
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
autosomal recessive cerebellar ataxia-blindness-deafness syndrome | OrphanDrug