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cochleosaccular degeneration-cataract syndrome

MeSH: C536432ORPHA: 3233

Contents

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

Overview

Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.

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 cochleosaccular degeneration-cataract syndrome, sourced from HPO and Orphanet clinical annotations.

Progressive sensorineural hearing impairmentCataractCochlear degenerationAtaxiaSeizure

Classification & Codes

MeSH Code

C536432

Orphanet Code

ORPHA:3233
cochleosaccular degeneration-cataract syndrome
MeSHC536432
OrphanetORPHA:3233
Treatments0 drug(s)
Symptoms on record5 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO