Conditions / Syndrome
Temtamy syndrome
info · Syndrome
A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome
A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.
Signs and symptoms
- Seizure
- Global developmental delay
- Microphthalmia
- Chorioretinal coloboma
- Mild intellectual disability
- Long philtrum
- Brachydactyly
- Hypotonia
- Hypertelorism
- Dental crowding
Also known as: Temtamy-Shalash syndrome; craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome; dysmorphism, corpus callosum agenesis and colobomas