Table 2.
Clinical Checklist
| Trait (Points) | Score |
| Family history of MR: | 1–2 |
| Compatible with Mendelian inheritance (1) | … |
| Incompatible with Mendelian inheritancea (2) | … |
| Prenatal-onset growth retardation | 2 |
| Postnatal growth abnormalitiesb: | 1–2 |
| Microcephaly (1) | … |
| Short stature (1) | … |
| Macrocephaly (1) | … |
| Tall stature (1) | … |
| ⩾2 Facial dysmorphic featuresc | 2 |
| Nonfacial dysmorphism and congenital abnormalitiesd: | 1–2 |
a
Including discordant phenotypes.
b
For each abnormality listed, assign 1 point, with a maximum score of 2 points.
c
Notably, hypertelorism, nasal anomalies, and ear anomalies.
d
Notably, hand anomaly, heart anomaly, hypospadias with/without undescended testis; for each, assign 1 point, with a maximum score of 2 points.