Bardet-biedl syndrome 21
MONDO:0044308BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).
Also known as: BBS21, Bardet-Biedl syndrome 21
0 clinical trials for this condition and its sub-types, 0 tagged with Bardet-biedl syndrome 21 itself.
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