Fig. 1: Clinical classification and genetic distribution of the cohort.
From: Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
a A priori clinical classification. All patients have been classified into five categories: (i) Bardet–Biedl syndrome (“BBS”); (ii) suspected of BBS (“BBS-like”); (iii) “RD + OTHERS”; (iv) “NON-SYNDROMIC”; and (v) “UNCLASSIFIED”. b Distribution of the causative biallelic genes found in the complete cohort. Bold numbers indicate the total number of cases genetically diagnosed for each gene, while the number of families to which these cases belong is indicated in brackets.
