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Cobblestone lissencephaly without muscular or ocular involvement

Disease definition

A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.

ORPHA:352682

Classification level: Disorder
  • Synonym(s):
    • Cobblestone lissencephaly without muscular or eye involvement
    • Lissencephaly type 2 without muscular or eye involvement
    • Lissencephaly type 2 without muscular or ocular involvement
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: Q04.3
  • OMIM: 615191
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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