Bardet-biedel

Molecular Etiology

 * Locus Heterogeneity
 * 19+ different genes
 * Tri-allelic inheritance
 * BBS3, heterozygous
 * BBS1, homozygous

Associated Birth Defects

 * Polydactyly, postaxial

Endocrine/Growth

 * obesity

Genitourinary

 * Renal disease
 * Hypogonadism

Sensorial

 * Blindness
 * retinitis pigmentosa

Neurological

 * Intellectual Disability