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Table 1 Diagnostic criteria in Bardet-Biedl syndrome (BBS)

From: Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

Primary features of BBS

Secondary features of BBS

Retinal dystrophy

Developmental delay

Post-axial polydactyly

Behavioral problems

Obesity

Neurological problems

Hypogenitalism

Speech disorder

Renal abnormalities

Brachydactyly, syndactyly, or clinodactyly

Learning disabilities

Dental anomalies

 

Nephrogenic diabetes insipidus

 

Diabetes mellitus

 

Hypertension

 

Anosmia

  1. Features in our patient are shown in bold.