Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14
Definition
A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.
Also known as Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14, modifier of, Bardet-Biedl syndrome type 14, BBS14 — per MONDO