Table 2 of Ajmal, Mol Vis 2013; 19:644-653.
BBS features | Present | ||
---|---|---|---|
Primary features | Family A IV:5 | Family A IV:4 | Family B IV:5 |
1. Rod-cone dystrophy | Yes | Yes | Yes |
2. Polydactyly | No | Yes | Yes |
3. Obesity | Yes | Yes | Yes |
4. Learning problems | Yes | Yes | Yes |
5. Hypogonadism | No | No | No |
6. Renal malfunction | No | No | No |
Secondary features | |||
1. Speech problems | No | No | Yes |
2. Strabismus, cataract, astigmatism | Strabismus | Astigmatism | No |
3. Brachydactyly, syndactyly | No | No | No |
4. Developmental delay | Yes | Yes | No |
5. Polyuria, polydipsia | No | No | No |
6. Diabetes mellitus | No | No | No |
7. Ataxia, imbalance | No | No | No |
8. Mild spasticity | No | No | No |
9. Dental crowding | No | No | Yes |
10. Heart problems | No | No | Yes |
11. Liver disease | No | No | No |
12. Family members with BBS | Yes | Yes | Yes |