Disease | bardet-biedl syndrome |
Phenotype | C0035333|retinitis |
Sentences | 1 |
PubMedID- 24739123 | Bbip1 was recently shown to cause a recessive type of bardet-biedl syndrome with retinitis pigmentosa, obesity, kidney failure, cognitive disability and brachydactyly [22], phenotypes that are obviously different from our patient. |
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