Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 1
Definition
A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.
Also known as Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1, modifier of, Bardet-Biedl syndrome type 1, BBS1 — per MONDO