Phenotype #0000020367

Individual ID 00024245
Associated disease IDDM2
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.
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-11-10 11:54:15 +01:00 (CET)
Date last edited 2014-12-19 17:29:13 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.