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]
| Feature | % of Persons w/Feature |
Developmental delay | 10/10 |
| Intellectual disability | 10/10 |
| Microcephaly | 7/10 |
| Dysmorphic facial features | 10/10 |