Orphanet: Temtamy syndrome

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Temtamy syndrome

Disease definition

A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.


Classification level: Disorder
  • Synonym(s):
    • Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
    • Temtamy-Shalash syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 218340
  • UMLS: C1857512
  • MeSH: C536959
  • GARD: 5688
  • MedDRA: -
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