Clinical features
Mutations in the C12orf57 gene cause Temtamy syndrome, a multiple-congenital anomaly syndrome characterized by colobomatous microphthalmia, craniofacial dysmorphism, profound global developmental delay, intractable seizures, and abnormalities of the thalamus and corpus callosum.
Prevalence
The prevalence of C12orf57-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
C12orf57-related disorder is inherited in an autosomal recessive manner.