Table 1. Clinical features for the diagnosis of Bardet-Biedl syndrome. For diagnosis, 4 major features or 3 major plus 2 minor are required. Adapted from Forsythe and Beales (2013) [11].

Major feature	Minor feature
Retinal cone-rod dystrophy	Neurologic abnormalities
Central obesity	Olfactory dysfunction
Postaxial polydactyly	Oral/dental abnormalities
Cognitive impairment	Cardiovascular and thoraco-abdominal abnormalities
Hypogonadism & genitourinary abnormalities	Gastrointestinal abnormalities
Kidney disease	Endocrine and metabolic abnormalities