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Table 1 Clinical description of BBS features presented by both patients

From: Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

  Affected male (IV-4) Affected female (IV-5)
Anthropometric data
Age 20 Years 18 Years
Height 5 feet 2 inch 4 feet 10 inch
Weight 75 Kg 65 Kg
BMIa 30.2 (Obese) 30.9 (Obese)
Major BBS phenotypes
Retinal degeneration Yes Yes
Polydactyly Yes Yes
Obesity Yes Yes
Developmental delay Yes Yes
Hypogonadism No No
Renal abnormality Yes Yes
Minor BBS phenotypes
Speech disability Yes Yes
Strabismus, cataract, astigmatism Yes No
Brachydactyly, syndactyly Yes Yes
Diabetes mellitus No No
Ataxia, imbalance No No
Mild spasticity No No
Dental anomaly No No
Heart problems No No
Liver disorders No  
Hearing Loss No Yes
Gastro-intestinal complications Digestion problem Digestion problem
Dermatologic issues No No
Menstruation in female - Irregular
  1. a“BMI calculator” available on CDC (website www.cdc.gov) is used for BMI calculation