bardet-biedl syndrome 21
BBS21 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).
MONDO:0015229
Bardet-Biedl syndrome
is_a
MONDO:0700374
CFAP418-related ciliopathy
is_a
BBS21
related