Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.

Abdulaziz AsiriEssra AloyouniMuhammad UmairYusra AlyafeeAbeer Al TuwaijriKheloud M AlhamoudiBader AlmuzzainiAbeer Al BazDeemah AlwadaaniMarwan NashabatMajid Alfadhel

Published in: Annals of clinical and translational neurology (2020)

We are the first to report the mutation of the RAP1GDS1 gene as a potential cause of GDD and hypotonia. However, further investigations into the molecular mechanisms involved are required to confirm the role of RAP1GDS1 gene in causing GDD and hypotonia.

Keyphrases

intellectual disability
autism spectrum disorder
copy number
genome wide
genome wide identification
machine learning
deep learning
case report
transcription factor
climate change