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ataxia-tapetoretinal degeneration syndrome

MeSH: C564788ORPHA: 1178

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 ataxia-tapetoretinal degeneration syndrome, sourced from HPO and Orphanet clinical annotations.

Visual impairmentRod-cone dystrophyPigmentary retinopathyNystagmusAtaxiaHypotoniaGait disturbanceAplasia/Hypoplasia of the cerebellumCognitive impairment

Classification & Codes

MeSH Code

C564788

Orphanet Code

ORPHA:1178
ataxia-tapetoretinal degeneration syndrome
MeSHC564788
OrphanetORPHA:1178
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO