Bardet-Biedl Syndrome

Bardet-Biedl Syndrome [BBS2]: Features include retinitis pigmentosa, obesity, polydactyly, intellectual disability/developmental delay, renal problems, anosmia, genital abnormalities, and male infertility. Other affected organs include the heart, liver and digestive system. There is variable age of onset and severity of symptoms.

Ashkenazi Jewish Carrier Frequency: 1 in 140