The manuscript describes an individual with a variant in RNF125 associated with Tenorio syndrome. The paper is well written and adds value information about the molecular pathway and the implication of the variants in the phenotype. There are minor issues and comments that have to be addressed before its publication:
1. The clinical features of the carrier individuals (sister and mother) can be deeply detailed since there might be minor clinical features apparently not reported. I.e. psychiatric behavioral anomalies have been observed in the mother and/or the sister.
2. Epilepsy is not a common feature associated with the disease. Have been detected another variant in the WES that can explain this feature or the RNF125 was the only one detected?
3. Review some typos and format: Page 8 Line 5, the gene RNF125 must be in Italics