Alfadhel syndrome caused by homozygous loss of function variants in the RAP1GDS1 gene located on chromosome 4q23. RAP1GDS1 has 15 coding exons that encodes a 607aa protein.
Alfadhel syndrome pathogenesis constitute diverse phenotypic presentation including 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.
RAP1GDS1