- ... you get pregnant Centers for Disease Control and Prevention
- ... published></health-condition-summary><health-condition-summary ><name >Bardet-Biedl syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... JS, suggesting an association with the ciliary disorder Bardet-Biedl syndrome ; the identification of biallelic pathogenic variants in INPP5E ... syndrome; NPHP = nephronophthisis; LCA = Leber congenital amaurosis; BBS = ... MORM = mental retardation, truncal obesity, retinal dystrophy, micropenis [ ...
- ... can be indicative of a syndrome (e.g., Bardet-Biedl syndrome and Joubert syndrome). With time, some individuals who ... see Table 2 in Joubert Syndrome, Clinical Characteristics ). Bardet-Biedl syndrome (BBS) is a multisystem ciliopathy primarily characterized by ...
- ... should prompt evaluation for alternative diagnosis such as Bardet-Biedl syndrome (see Table 4 ). Table 4. Disorders to Consider ... w/Alström syndrome Distinguishing from Alström syndrome (AS) Bardet-Biedl syndrome (BBS) >21 genes 1 AR 2 Rod-cone ...
- ... adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. Clin Genet. 2015 May 19 doi: 10.1111/ ... Qin S, et al. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet. 2016 Mar 22 doi: ...
- ... adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. Clin Genet. 2015 May 19doi: 10.1111/cge. ... Qin S, et al. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet. 2016 Mar 22doi: 10. ...
- ... deficiency, insulinoma, hypothalamic disorders (e.g., Froelich syndrome, Bardet-Biedl syndrome, or Prader-Willi syndrome), asthma, or intellectual and ...
- ... deficiency, insulinoma, hypothalamic disorders (e.g., Froelich syndrome, Bardet-Biedl syndrome, Prader-Willi syndrome), or medication use (e.g., ...
- ... uremic syndrome: MedlinePlus Genetics (National Library of Medicine) Bardet-Biedl syndrome: MedlinePlus Genetics (National Library of Medicine) Bartter syndrome: ...
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