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
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Infancy
- Neonatal
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