Temtamy syndrome

What is Temtamy syndrome?

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.

Other condition names

  • Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
  • Temtamy-Shalash syndrome

Inheritance type

Autosomal recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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