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X-linked complicated corpus callosum dysgenesis

Disease definition

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

ORPHA:1497

Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q04.8
  • OMIM: 304100
  • UMLS: C1839909
  • MeSH: -
  • GARD: 12526
  • MedDRA: -

Detailed information

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