Orphanet: Isolated corpus callosum agenesis
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Isolated corpus callosum agenesis

Disease definition

A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving.

ORPHA:200

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Antenatal
  • ICD-10: Q04.0
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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