TABLE 1.
Clinical features in individuals with RPL10‐related condition reported in literature (n=15) and in the four novel patients bearing the p.Arg32Leu variant in RPL10
| Patients of the literature (n = 15) | Patients with the p.Arg32Leu variant in RPL10 (n = 4) | |
|---|---|---|
| Variant inherited by the mother | 93% (14/15) | 100% (4/4) |
| Microcephaly | ||
| Prenatal | 0% (0/4) | 0% (0/2) |
| Postnatal | 75% (6/8) | 100% (4/4) |
| Short stature | 63% (5/8) | 0% (0/4) |
| Neurodevelopmental features | ||
| DD/ID | 83% (10/12) | 100% (4/4) |
| Hypotonia | 100% (6/6) | 75% (1/4) |
| Seizures | 89% (8/9) | 0% (0/4) |
| ASD | 78% (7/9) | 75% (3/4) |
| Cardiac anomalies | 75% (3/4) | 50% (2/4) |
| Eye defects | 50% (5/10) | 100% (4/4) |
| Hearing loss | 67% (4/6) | 0% (0/4) |
| Genitourinary anomalies | 78% (7/9) | 75% (3/4) |
| Gastrointestinal problems | 100% (5/5) | 25% (1/4) |
Abbreviations: ASD, autism spectrum disorder; DD, developmental delay; ID, intellectual disability.