Smith-Kingsmore Syndrome (mTOR gene)

By Alessandra, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Italy, May 25, 2018

Hi, 

I have a 4 year old boy with Smith-Kingsmore Syndrome (genetic mutation of the gene mTOR). This mutation is causing him general developmental delay and autism. It seems there are less than 10 cases around the world. Has anyone heard of it?

Thanks

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