Table 2 of Ajmal, Mol Vis 2013; 19:644-653.


Table 2. BBS features in affected individuals of both families.

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