Table 2.
Clinical description of subjects with Biallelic RAP1GDS1 mutation.
| Parameters | Family 1 | Family 2 | ||
|---|---|---|---|---|
| RAP1GDS1 variant NM_001100426.2 | IV‐9 | IV‐10 | IV‐4 | IV‐2 |
| Ethnicity | Arab‐Saudi | Arab‐Saudi | Arab‐Saudi | Arab‐Saudi |
| Consanguinity | + | + | + | + |
| Perinatal history | − | − | − | − |
| Pregnancy course | Normal | Normal | Normal | Normal |
| Delivery | Normal | Normal | Normal | Normal |
| APGAR | Normal | Normal | Normal | Normal |
| Postnatal growth parameters | Normal | Normal | Normal | Normal |
| Clinical features | ||||
| Dysmorphic | + | + | + | + |
| Developmental delay | ||||
| Motor | + | + | + | + |
| Receptive Speech | − | − | − | − |
| Expressive speech | + | + | + | + |
| Seizures | − | − | + | − |
| Club feet | − | − | + | + |
| Horseshoe kidney | + | − | − | − |
| Axial Hypotonia | + | + | + | + |
| Latest growth parameters | Normal | Normal | <5th percentile | <5th percentile |
| Intellectual disability | + | + | + | + |