| Phenotype details |
Type 2 Diabetis, Obesity, one of the individuals had bilateral hypoacusis or partial hearing loss, a characteristic often associated with BBS. Two of the homozygotes are obese (body mass index [BMI] = 39.2, age = 70; BMI = 37.73, age = 67), and one of them is overweight (BMI = 28.83, age = 69). The lipid levels for one of the individuals (BMI = 37.7) showed that most of her lipid measurements are in the normal range (total cholesterol = 22nd percentile, low-density lipoprotein = 19th percentile, high-density lipoprotein = 14th percentile), but she has elevated levels of triglycerides in the 91st percentile, consistent with the obesity status. None of the three individuals were reported to have cardinal phenotypes associated with BBS such as polydactyly, intellectual disability, cystic kidney disease, or retinal dystrophy. |