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Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Disease definition

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

ORPHA:52055

  • Synonym(s):
    • Graham-Cox syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 300472
  • UMLS: C1845446
  • MeSH: -
  • GARD: 12486
  • MedDRA: -
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