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X-linked neurodegenerative syndrome, Bertini type

ORPHA: 85334

Contents

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

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 X-linked neurodegenerative syndrome, Bertini type, sourced from HPO and Orphanet clinical annotations.

Macular degenerationIntellectual disabilityAtaxiaGlobal developmental delayAgenesis of corpus callosumGeneralized hypotoniaGeneralized myoclonic seizureRecurrent bronchopulmonary infectionsEpileptic encephalopathy

Classification & Codes

Orphanet Code

ORPHA:85334
X-linked neurodegenerative syndrome, Bertini type
OrphanetORPHA:85334
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO