Bardet-Biedl syndrome 15
Your Results
Sign InDescription
BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene (Kim et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
68