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spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

ORPHA: 73245

Contents

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

Overview

) or androgen receptor genes

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 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome, sourced from HPO and Orphanet clinical annotations.

CataractDandy-Walker malformationCerebellar vermis hypoplasiaEnlarged cisterna magnaDistal muscle weaknessEMG: chronic denervation signsDistal lower limb amyotrophy

Classification & Codes

Orphanet Code

ORPHA:73245
spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
OrphanetORPHA:73245
Treatments0 drug(s)
Symptoms on record7 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO