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PedAM

Pediatric Disease Annotations & Medicines




Disease retinitis
Phenotype C0752166|bardet-biedl syndrome
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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