Professionals

Disease causing homozygous variants in the RAP1GDS1 genes have been associated with Alfadhel syndrome. The disorder is inherited in autosomal recessive fashion. Alfadhel syndrome represents hallmark features such as global developmental delay (GDD), intellectual disability, speech delay, short stature, abnormality of movement, difficulty standing, delayed myelination, generalized hypotonia, joint laxity, sterotypy, and dysmorphic features.