Abstrakt
We report on two young adult siblings with extremely rare RFT1-CDG.Similar to the six previously described patients, these siblings have profound intellectual disability but no feeding problems or failure to thrive. Their epilepsy is well controlled and coagulopathy is mild without clinical consequences.
In addition, visual acuity is normal in both patients and hearing impairment is present onlyin one. Our findings extend the phenotype associated with RFT1-CDG.