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Acrocallosal syndrome

Disease definition

A polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.


Classification level: Disorder
  • Synonym(s):
    • ACS
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q04.0
  • OMIM: 200990
  • UMLS: C0796147  C2931760
  • MeSH: -
  • GARD: 5721
  • MedDRA: -
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