The developmental disorder caused by homozygous RAP1GDS1 variants constitute diverse phenotypic presentation including global developmental delay (GDD), intellectual disability, microcephaly, speech delay and dysmorphic facial features.
Table 1: Clinical manifestation RAP1GDS1 (N=10). [Asiri et al.2020; Maddirevula et al. 2020; Bertoli-Avella et al. 2021]
Developmental delay
10/10
Intellectual disability10/10Microcephaly7/10Dysmorphic facial features10/10