Kohlschutter-Tonz Syndrome (ROGDI)

Kohlschutter-Tonz syndrome is an autosomal recessive disorder caused by pathogenic variants in the gene ROGDI. Symptoms of this disorder include severe global developmental delay, intractable seizures, spasticity, and amelogenesis imperfecta (a disorder of teeth development with enamel hypoplasia and discoloration of teeth). The typical age of onset is infancy. There is variable severity of the disorder. Most individuals lose their ability to walk in their early 20s. In the most severe cases, individuals are born with significant delays and have a more rapid deterioration. Life expectancy is unknown; however, it may be reduced due to the severity of symptoms. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):