A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.

Markéta Vlčková Darina Prchalova Pavel Zimmermann Jana Haberlova Sarka BendovaVeronika MoslerovaViktor Stránecký Zdenek Sedlacek Miroslava Hancarova

Published in: Molecular genetics & genomic medicine (2023)

Our patient confirms that CMS20 can be associated with NDDs. The study illustrates the strength of ES in deciphering the genetic basis of rare diseases, contributes to characterization of CMS20 and suggests trends in genotype-phenotype correlation in CMS20.

Keyphrases

case report
copy number
early onset
genome wide
intellectual disability
autism spectrum disorder