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cobblestone lissencephaly without muscular or ocular involvement

ORPHA: 352682

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 cobblestone lissencephaly without muscular or ocular involvement, sourced from HPO and Orphanet clinical annotations.

HydrocephalusOptic atrophyCerebellar hypoplasiaOccipital encephaloceleGray matter heterotopiaHypoplasia of the brainstemAbnormal cerebral white matter morphologyType II lissencephalySevere global developmental delayAbnormal myelinationDysgyriaSeizure

Classification & Codes

Orphanet Code

ORPHA:352682
cobblestone lissencephaly without muscular or ocular involvement
OrphanetORPHA:352682
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
cobblestone lissencephaly without muscular or ocular involvement | OrphanDrug