Abstract
Kleefstra Syndrome is a rare mono-genetic syndrome, caused by haploinsufficiency of the EHMT1 gene, an important regulator gene involved nervous system development. The clinical phenotype includes intellectual disability, autistic traits and gastrointestinal problems. The gut microbiota may be an unexplored mechanism underlying clinical variation, as they are an important modifier of the gut-brain-axis, the bidirectional communication super highway.
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