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hereditary spastic paraplegia 54

ORPHA: 320380

Contents

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

Overview

gene (8p11.23) encoding phospholipase DDHD2.

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 hereditary spastic paraplegia 54, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilitySpastic paraplegiaGlobal developmental delayStrabismusDysarthriaGait disturbanceDysphagiaSpastic gaitHypoplasia of the corpus callosumOptic disc hypoplasiaFoot joint contracturePeriventricular white matter hyperintensitiesHigh palateShort staturePeriventricular leukomalaciaTip-toe gait

Classification & Codes

Orphanet Code

ORPHA:320380
hereditary spastic paraplegia 54
OrphanetORPHA:320380
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO