Bardet-Biedl syndrome 14
A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.
MONDO:0015229
Bardet-Biedl syndrome
is_a
MONDO:0100451
CEP290-related ciliopathy
is_a
BBS14
exact
Bardet-Biedl syndrome 14
exact
Bardet-Biedl syndrome 14, modifier of
exact
Bardet-Biedl syndrome type 14
exact