Here, we describe the phenotype of an individual presenting with global developmental delay, axial hypotonia and limb hypertonia, structural brain abnormalities, ophthalmic issues, and distinctive craniofacial features, in whom exome sequencing identified a homozygous missense variant in RAB35 that results in the change of an arginine to a histidine in the 27th position. Here, RAB35 is linked to Global developmental delay.