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L1 syndrome

Disease definition

L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms).

ORPHA:275543

  • Synonym(s):
    • CRASH syndrome
    • Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
    • L1CAM syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.8
  • OMIM: 303350  304100  307000
  • UMLS: -
  • MeSH: -
  • GARD: 12524
  • MedDRA: -

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