Human genes for Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 14 [DOID:0110136]
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.
Synonyms: Bardet-Biedl syndrome 14, BardetBiedl syndrome 14, DOID:0110136, BBS14