Bardet-Biedl syndrome 14
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Sign InDescription
BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008). 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
164